The 2023 version of the gene table of neuromuscular disorders (nuclear genome)

This table used to be published annually in the December issue since 2010. It will be now on published in the January issue. Its purpose is to provide the reader of Neuromuscular Disorders with an updated list of monogenic neuromuscular diseases due to a primary defect residing in the nuclear genome. It comprises diseases in which the causative gene is known or at least localized on a chromosome, if not yet identified. Diseases for which the locus has not been mapped or which are due to defects involving mitochondrial genes are not included. 1For diseases caused by mitochondrial genome mutations see: MITOMAP A human mitochondrial genome database. A compendium of polymorphisms and mutations of the human mitochondrial DNA http://www.mitomap.org/MITOMAP. As in past years the diseases are classified into 16 groups:1.Muscular dystrophies;2.Congenital muscular dystrophies;3.Congenital myopathies;4.Distal myopathies;5.Other myopathies;6.Myotonic syndromes;7.Ion channel muscle diseases;8.Malignant hyperthermias;9.Metabolic myopathies;10.Hereditary cardiomyopathies, subdivided into10A(non-arrhythmogenic) and10B(arrhythmogenic);11.Congenital myasthenic syndromes;12.SMA & Motor neurone diseases;13.Hereditary ataxias;14.Hereditary motor and sensory neuropathies;15.Hereditary paraplegias;16.Other neuromuscular disorders. In each group every entry corresponds to a clinical-genetic entity and has an item number. 2The assigned item number is provisional and may change in the next annual version. A given gene may be involved in several different clinical entities (phenotypic heterogeneity such as in LMNA defects) and conversely a given clinical entity may be produced by a defect in several possible alternative genes (genotypic heterogeneity such as in CMT). In some diseases both kinds of heterogeneity may occur. As a consequence a gene or a disease may be cited in several places of the table. The annual printed version below is abridged and does not contain the Arrhythmogenic Hereditary Cardiomyopathies (Group 10-B), Hereditary Ataxias (Group 13), and Hereditary Paraplegias (Group 15). The list of references is restricted to new key references corresponding to the items added or implemented since the preceding year. The full online version contains the complete data of the 16 groups and the cumulative list of key references since 1991. It is freely accessible at https://www.musclegenetable.fr. It is designed to cope with the complexity described above. In this version the data are cross-referenced and linked to PubMed and to major databases related to molecular medicine (Leiden Muscular Dystrophy, OMIM, NCBI, Genatlas, Orphanet, GeneCards). It contains several query tools allowing one to perform a variety of interrogations. This computerized version of the table is now surpassing the printed version which cannot accommodate the ever increasing volume and complexity of data. The statistics tool instantly provides the latest list of genes, proteins, phenotypes and cumulative bibliographic key references. Each list can be displayed, printed and exported in Excel format. There are 25 new items, marked by background shading. Altogether they comprise 15 additional genes, 9 additional phenotypic variants caused by a gene already listed in the 2022 version, and one locus without identifed gene, that was previously missed (item #10.23). The new key references of the printed version of the table are listed on pages 116–117 in this issue. As a reminder, we implemented the revised nomenclature of LGMD (group 1) proposed by Straub et al. (2018), keeping the previous nomenclature in parallel in order to allow a smooth transition for users. For CMT (group 14), we decided not to implement the proposed revised nomenclature (Maguy et al. 2018) in the present released printed version of the gene table of neurouscular disorders, in order to allow further time for the neuromuscular community to fully validate these proposed nomenclatures. –Printed version: Benarroch L, Bonne G, Rivier F, Hamroun D. The 2023 version of the gene table of neuromuscular disorders. Neuromuscul Disord. 33 (1), 76–117.–Online version: Gene Table of Neuromuscular Disorders: http://www.musclegenetable.fr Users of the gene table are kindly requested to send any comments on the printed and/or the online version to [email protected]. We are extremely thankful to Jean-Claude Kaplan for his constant trust and support in giving us the opportunity to take over the maintenance of the ``Muscle Gene Table'' he initiated in 1991. We sincerely wish him an enjoyable retirement from the Gene Table, knowing he will keep a kindly eye on it. We sincerely thank for their careful review of entries: Tanya Stojkovic for groups 12 and 14, Hanns Lochm..ller for group 11 and Volker Straub for groups 1 and 5. We acknowledge the help of Myobase, a bibliographic alert system of the AFM (Asscociation Française contre les Myopathies), URL: http://www.myobase.org/ We are extremely appreciative of the invaluable assistance provided by Jane Miller at all stages of elaboration and editing of this table. This work received funding from the European Union's Horizon 2020 research and innovation programme under grant agreement No. 779257 (Solve-RD). Louise Benarroch is supported by the Solve-RD grant.New in the 2023 printed version of the gene table15 genes added:DNAJB4 (item # 5.16)RILPL1 (item # 5.24)MLIP (item # 9.13)FHOD3 (item # 10.30)PPCS (item # 10.82)RPL3L (item # 10.83)BAG5 (item # 10.85)LMOD2 (item # 10.86)KIF20A (item # 10.97)EXOSC9 (item # 12.15)LAS1L (item # 12.44)POLR3B (item # 14.9)MYO9B (item # 14.98)SLC25A26 (item # 16.88)ENDOG (item # 16.89)9 additional phenotypic variants caused by mutation in a gene already listed in the gene tableCACNA1S (item # 1.30)FXR1 (item # 3.60)HNRNPA2B1 (item # 5.25)JPH2 (item # 10.84)CHRNA1 (item # 11.43)DES (item # 11.43)CAPN1 (item # 12.16)C9orf72 (item # 12.108)NOTCH2NLC (NBPF19) (item # 14.77)28 new key references New in the 2023 printed version of the gene table 15 genes added:DNAJB4 (item # 5.16)RILPL1 (item # 5.24)MLIP (item # 9.13)FHOD3 (item # 10.30)PPCS (item # 10.82)RPL3L (item # 10.83)BAG5 (item # 10.85)LMOD2 (item # 10.86)KIF20A (item # 10.97)EXOSC9 (item # 12.15)LAS1L (item # 12.44)POLR3B (item # 14.9)MYO9B (item # 14.98)SLC25A26 (item # 16.88)ENDOG (item # 16.89) 9 additional phenotypic variants caused by mutation in a gene already listed in the gene tableCACNA1S (item # 1.30)FXR1 (item # 3.60)HNRNPA2B1 (item # 5.25)JPH2 (item # 10.84)CHRNA1 (item # 11.43)DES (item # 11.43)CAPN1 (item # 12.16)C9orf72 (item # 12.108)NOTCH2NLC (NBPF19) (item # 14.77) 28 new key references Gene table of monogenic neuromuscular disorders (nuclear genome only) Vol. 33 No. 1, January 2023 A computerized version of the table is freely accessible at http://www.musclegenetable.fr/ Shaded background indicates newly added items. Tabled 1DISEASE NAMEItem line in this groupInheritanceLocus or disease symbol and OMIM numberChromosomeGene symbol and OMIM numberProtein (mitochondrial proteins indicated by symbol [M])Key referencesOther allelic disease(s)(group in this table)GROUP 1. MUSCULAR DYSTROPHIESDuchenne muscular dystrophy;Becker muscular dystrophy1.1XRDMD310200BMD300376Xp21.2-p21.1DMD300377DystrophinMonaco et al. (1986)Burghes et al. (1987)Koenig et al. (1987, 1988)Hoffman et al. (1987, 1988)allelic to CMD3B (group10A)Emery-Dreifuss muscular dystrophy, X-linked, type 11.2XREDMD1310300Xq28EMD300384EmerinHodgson et al. (1986)Romeo et al. (1988)Bione et al. (1994, 1995)Klauck et al. (1995)Nigro et al. (1995)Emery-Dreifuss muscular dystrophy 2, autosomal dominant1.3ADEDMD21813501q22LMNA150330Lamin A/CBonne et al. (1999)Worman and Bonne (2007)allelic to EDMD3 (group 1), formerly LGMD1B (group 1), MDCL (group 2), CMD1A (group 10A), CMT2B1 (group 14) [+ several other phenotypes not in this table: FPLD2#151660, HGPS#176670, restrictive dermopathy#275210, MADA#248370]Emery-Dreifuss muscular dystrophy 3, autosomal recessive1.4AREDMD36165161q22LMNA150330Lamin A/CRaffaele di Barletta et al. (2000)Worman and Bonne (2007)allelic to EDMD2 (group 1), formerly LGMD1B (group 1), MDCL (group 2), CMD1A (group 10A), CMT2B1 (group 14) [+ several other phenotypes not in this table: FPLD2#151660, HGPS#176670, restrictive dermopathy#275210, MADA#248370]Emery-Dreifuss muscular dystrophy 4, autosomal dominant1.5ADEDMD46129986q25.2SYNE1608441Spectrin repeat containing, nuclear envelope 1 (nesprin-1)Zhang et al. (2007)allelic to DCM related to SYNE1 (group 10A), SCAR8 (group 13), AMCM (group 16)Emery-Dreifuss muscular dystrophy 5, autosomal dominant1.6ADEDMD561299914q23.2SYNE2608442Spectrin repeat containing, nuclear envelope 2 (nesprin-2)Zhang et al. (2007)Emery-Dreifuss muscular dystrophy 6, X-linked1.7XREDMD6300696Xq26.3FHL1300163Four and a half LIM domain 1Gueneau et al. (2009)allelic to XMPMA (group 5), SPM (group 5), RBMX1A/B (group 5)Emery-Dreifuss muscular dystrophy 7, autosomal dominant1.8ADEDMD76143023p25.1TMEM43(=LUMA)612048Transmembrane protein 43(=LUMA)Liang et al. (2011)allelic to ARVD5 (group 10B)Myopathy with rigid spine and distal joint contractures(Formerly LGMD2Y)1.9ARMRRSDC6170721q25.2TOR1AIP1(=LAP1B)614512Torsin A interacting protein 1(=Lamin Associated Peptide 1B)Kayman-Kurekci et al. (2014)Fichtman et al. (2019)allelic to CMS (group 11)(Continued on next page) Open table in a new tab Tabled 1DISEASE NAMEItem line in this groupInheritanceLocus or disease symbol and OMIM numberChromosomeGene symbol and OMIM numberProtein (mitochondrial proteins indicated by symbol [M])Key referencesOther allelic disease(s)(group in this table)Facio-scapulo-humeral muscular dystrophy, type 11.10ADFSHD11589004q35DUX4*606009(*inappropriate reactivation)Double homeobox 4Wijmenga et al. (1990–1993)Upadhyaya et al. (1990, 1992)Wright et al. (1993)van Deutekom et al. (1993)Gabellini et al. (2002)Van der Maarel et al. (2005)Gabellini et al. (2006)Petrov et al. (2006)Lemmers et al. (2010)Facio-scapulo-humeral muscular dystrophy, type 21.11ADFSHD215890118p11.32SMCHD1*614982(*causing inappropriate reactivation of DUX4* 606009)Structural maintenance of chromosomes flexible hinge domain containing 1de Greef et al. (2010)Sacconi et al. (2012)Lemmers et al. (2012)Sacconi et al. (2013)allelic to Bosma Arhinia Microphthalmia Syndrome; BAMS (#603457)Facio-scapulo-humeral muscular dystrophy1.12ARFSHD36194771p13.3LRIF1615354Ligand-Dependent Nuclear Receptor-Interacting Factor 1Hamanaka et al. (2020)Muscular dystrophy with generalized lipodystrophy1.13ADCGL461332717q21.2CAVIN1603198Caveolae-associated protein 1Hayashi et al. (2009)Muscular dystrophy related to GOSR21.14AR17q21.32GOSR2604027Golgi SNAP receptor complex member 2Stemmerik et al. (2021)allelic to Congenital muscular dystrophy with hypoglycosylation of dystroglycan and epilepsy (group 2)Muscular dystrophy with gnathodiaphyseal dysplasia1.15AR11p14.3ANO5(TMEM16E)608662Anoctamin 5Shaibani et al. (2021)allelic to LGMDR12 (group 1) and MMD3 (group 4)Muscular dystrophy with hearing loss and ovarian insufficiency syndrome1.16ARMDHLO6195181q42.3GGPS1606982Geranylgeranyl Diphosphate Synthase 1Foley et al. (2020)Limb girdle muscular dystrophies, dominantLGMDD1(formerly LGDM1E)1.17ADLGMDD1(LGMD1E)6035117q36.3DNAJB6611332Hsp40 homologue, subfamily B, number 6Speer et al. (1999),Sarparanta e al (2012)Harms et al. (2012)allelic to Rimmed vacuole distal myopathy and distal myopathy (group 4)LGMDD2(Formerly LGMD1F)1.18ADLGMDD2(LGMD1F)6084237q32.1TNPO3610032Transportin 3Palenzuela et al. (2003)Melià et al. (2013)Torella et al. (2013)allelic to Congenital Myopathy related to TNPO3 (group 3)LGMDD3(Formerly LGMD1G)1.19ADLGMDD3(LGMD1G)6091154q21.22HNRNPDL607137Heterogeneous nuclear ribonucleoprotein d-likeStarling et al. (2005)Vieira et al. (2014)LGMDD41.20ADLGMDD4(LGMD1I)61812915q15.1CAPN3114240Calpain-3Vissing et al. (2016)Martinez-Thompson et al. (2018)allelic to LGMDR1 (group 1)LGMDD51.21ADLGMDD5(BTHLM1)15881021q22.3COL6A1120220Collagen type VI subunit alpha 1Jöbsis et al. (1996)allelic to LGMDR22 (group 1), UCMD1 and BTHLM1 (group 2)LGMDD51.22ADLGMDD5(BTHLM1)15881021q22.3COL6A2120240Collagen type VI subunit alpha 2Jöbsis et al. (1996)allelic to LGMDR22 (group 1); UCMD1, BTHLM1 and Congenital myosclerosis (group 2)LGMDD51.23ADLGMDD5(BTHLM1)1588102q37.3COL6A3120250Collagen type VI subunit alpha 3Speer et al. (1996)Bertini et al. (1998)Pan et al. (1998)allelic to LGMDR22 (group 1); UCMD1 and BTHLM1 (group 2)Myofibrillar myopathy 3(Formerly LGMD1A)1.24ADMFM3609200(LGMD1A159000)5q31MYOT604103MyotilinSpeer et al. (1992)Hauser et al. (2000)allelic to Distal myotilinopathy (group 4), MFM3 (group 5), spheroid body myopathy (group 5)Emery-Dreifuss muscular dystrophy 2(Formerly LGMD1B)1.25ADEDMD2181350(LGMD1B159001)1q22LMNA150330Lamin A/Cvan der Kooi et al. (1997)Muchir et al. (2000)Worman and Bonne (2007)allelic to EDMD2, EDMD3 and formerly LGMD1B (group 1), MDCL (group 2), CMD1A (group 10A), CMT2B1 (group 14) [+ several other phenotypes not in this table: FPLD2 #151660, HGPS #176670, restrictive dermopathy #275210, MADA #248370](Continued on next page) Open table in a new tab Tabled 1DISEASE NAMEItem line in this groupInheritanceLocus or disease symbol and OMIM numberChromosomeGene symbol and OMIM numberProtein (mitochondrial proteins indicated by symbol [M])Key referencesOther allelic disease(s)(group in this table)Rippling muscle disease 2(Formerly LGMD1C)1.26ADRMD2606072(LGMD1C607801)3p25.3CAV3601253Caveolin-3Minetti et al. (1998) McNally et al. (1998)allelic to MPDT (group 4), Creatin phosphokinase elevated serum (group 5), RMD2 (group 6), CMH1 (group 10A), LQT9 (group 10B)Myofibrillar myopathy 1(Formerly LGMD1 related to DES)1.27ADMFM16014192q35DES125660DesminMessina et al. (1997)Greenberg et al. (2012)Hedberg et al. (2012)allelic to formerly LGMD2R (group 1), MFM1 with or without ARCV7 (group 5), CMD1I (group 10A), ARVC7 (group 10B), myopathy, cardiomyopathy and CMS (group 11)LGMD1H1.28ADLGMD1H 6135303p25.1-p23??Bisceglia et al. (2010)LGMD related to KBTBD131.29AD15q22.31KBTBD13613727Kelch repeat and BTB/POZ domain containing protein 13Garibaldi et al. (2018)allelic to NEM6 (group 3)LGMD related to CACNA1S, late-onset1.30AD1q32.1CACNA1S114208Calciul channel, voltage-dependent, L type, alpha 1S subunitLópez-Hernández et al. (2021)allelic to Congenital myopathy with ophthalmoplegia related to CACNA1S (group 3), HOKPP1 (group 7) and MHS5 (group 8)Limb girdle muscular dystrophies, recessiveLGMDR1(Formerly LGMD2A)1.31ARLGMDR1(LGMD2A)25360015q15.1CAPN3114240Calpain-3Beckmann et al. (1991)Young et al. (1992)Richard et al. (1995, 1997)allelic to LGMDD4 (group 1)LGMDR2(Formerly LGMD2B)1.32ARLGMDR2(LGMD2B)2536012p13.2DYSF603009DysferlinBashir et al. (1994)Bashir et al. (1998)Liu et al. (1998)allelic to MMD1 (group 4)LGMDR3(Formerly LGMD2D)1.33ARLGMDR3(LGMD2D)60809917q21.33SGCA600119Alpha-sarcoglycanRoberds et al. (1994)Piccolo et al. (1995)Passos-Bueno et al. (1995)Ljunggren et al. (1995)Carrié et al. (1997)LGMDR4(Formerly LGMD2E)1.34ARLGMDR4(LGMD2E)6042864q12SGCB600900Beta-sarcoglycanLim et al. (1995)Bönnemann et al. (1995)Bönnemann et al. (1996)LGMDR5(Formerly LGMD2C)1.35ARLGMDR5(LGMD2C)25370013q12.12SGCG608896Gamma-sarcoglycanBen Othmane et al. (1992)Azibi et al. (1993)Noguchi et al. (1995)McNally et al. (1996)Piccolo et al. (1996)LGMDR6(Formerly LGMD2F)1.36ARLGMDR6(LGMD2F)6012875q33.3-q33.3SGCD601411Delta-sarcoglycanPassos-Bueno et al. (1996) Nigro et al. (1996)allelic to CMD1L (group 10A)LGMDR7(Formerly LGMD2G1.37ARLGMDR7(LGMD2G)60195417q12TCAP604488Titin-cap (telethonin)Moreira et al. (1997)Moreira et al. (2000)allelic to CMD related to TCAP (group 2), CMH25 (group 10A), CMD1N (group 10A)LGMDR8(Formerly LGMD2H1.38ARLGMDR8(LGMD2H)2541109q33.1TRIM32602290Tripartite motif-containing 32Weiler et al. (1998)Frosk et al. (2002)allelic to sarcotubular myopathy (group 3)LGMDR9(Formerly LGMD2I1.39ARLGMDR9(MDDGC5)60715519q13.32FKRP606596Fukutin related proteinDriss et al. (2000) Brockington et al. (2001a)allelic to MDDGB5 (group 2), MDDGA5/WWS (group 2), MDDGA5/MEB (group 2)LGMDR10 (Formerly LGMD2J)1.40ARLGMDR10(LGMD2J)6088072q31.2TTN188840TitinHackman et al. (2003)allelic to CNM related to TTN (group 3), MmD related to TTN (group 3), SALMY (group 3), TMD (group 4), MFM9 (group 5), CMH9 (group 10), CMD1G (group 10), LCCS related to TTN (group 12)LGMDR11(Formerly LGMD2K)1.41ARLGMDR11(MDDGC1)6093089q34.13POMT1607423Protein 0-mannosyltransferase 1Balci et al. (2005)D'Amico et al. (2006)allelic to WWS/MDDGA1 (group 2) and MDDGB1 (group 2)LGMDR12(Formerly LGMD2L)1.42ARLGMDR12(LGMD2L)61130711p14.3ANO5(TMEM16E)608662Anoctamin 5Jarry et al. (2007)Bolduc et al. (2008, 2010)Hicks et al. ( 2011)allelic to Muscular dystrophy with gnathodiaphyseal dysplasia (group 1) and MMD3 (group 4)LGMDR13(Formerly LGMD2M)1.43ARLGMDR13(MDDGC4)6115889q31.2FKTN607440FukutinMurakami et al. (2006)Godfrey et al. (2006)allelic to MDDGA4/FCMD (group 2),MDDGB4/WWS (group 2), CMD1X (group 10A)(Continued on next page) Open table in a new tab Tabled 1DISEASE NAMEItem line in this groupInheritanceLocus or disease symbol and OMIM numberChromosomeGene symbol and OMIM numberProtein (mitochondrial proteins indicated by symbol [M])Key referencesOther allelic disease(s)(group in this table)LGMDR14 (Formerly LGMD2N)1.44ARLGMDR14(MDDGC2)61315814q24.3POMT2607439Protein O-mannosyl transferase 2Biancheri et al. (2007)allelic to MDDGA2/MDDGB2/WWS/MEB (group 2)LGMDR15(Formerly LGMD2O)1.45ARLGMDR15(MDDGC3)6131571p34.1POMGNT1606822Protein O-linked mannose beta1,2-N-acetyl-glucosaminyl-transferase 1Godfrey et al. (2007)Clement et al. (2008)Raducu et al. (2012)allelic to MDDGA3/MDDGB3/WWS (group 2) and MDDGA3/MEB (group 2)LGMDR16(Formerly LGMD2P)1.46ARLGMDR16(MDDGC9)6138183p21.31DAG1128239Dystrophin-associated glycoprotein 1 (alpha-dystroglycan)Hara et al. (2011)allelic to MDDGA9 (group 2)LGMDR17(Formerly LGMD2Q)1.47ARLGMDR17(LGMD2Q)6137238q24.3PLEC601282PlectinGundesli et al. (2010)allellic to LGMD with ophthalmoplegia (group 1), EBSMD (group 5), and Myasthenic syndrome realted to PLEC (group 11)LGMDR18(Formerly LGMD2S)1.48ARLGMDR18(LGMD2S)6153564q35.1TRAPPC11614138Trafficking protein particle complex 11Bögershausen et al. (2013)allelic to CMD related to TRAPPC11 (group 2)LGMDR19(Formerly LGMD2T)1.49ARLGMDR19(MDDGC14)6153523p21.31GMPPB615320GDP-mannose pyrophosphorylase BCarss et al. (2013)Cabrera-Serrano et al. (2015)allelic to MEB/MDDGA14, MDDGB14 (group 2) and congenital myyasthenic syndrome (group 11)LGMDR20(Formerly LGMD2U)1.50ARLGMDR20(MDDGC7)6160527p21.2-p21.1CRPPA614631Isoprenoid synthase domain containing proteinTasca et al. (2013)allelic to WWS/ MDDGA7 (group 2)LGMDR21(Formerly LGMD2Z)1.51ARLGMDR21(LGMD2Z)6172323q13.33POGLUT1615618Protein O-Glucosyltransferase 1Servian-Morilla et al. (2016)LGMDR22(Bethlem myopathy 1)1.52ARLGMDR22(UCMD1)25409021q22.3COL6A1120220Collagen type VI subunit alpha 1Pan et al. (2003)Giusti et al. (2005)allelic to LGMDD5 (group 1), UCMD1 and BTHLM1 (group 2)LGMDR22(Bethlem myopathy 1)1.53ARLGMDR22(UCMD1)25409021q22.3COL6A2120240Collagen type VI subunit alpha 2Jokela et al. (2019)allelic to LGMDD5 (group 1), UCMD1, BTHLM1 and congenital myosclerosis (group 2)LGMDR22(Bethlem myopathy 1)1.54ARLGMDR22(UCMD1)2540902q37.3COL6A3120250Collagen type VI subunit alpha 3Demir et al. (2002)allelic to LGMDD5 (group 1); UCMD1 and BTHLM1 (group 2)LGMDR231.55ARLGMDR236181386q22.33LAMA2156225Laminin 2, Heavy chain (laminin alpha2 chain of merosin)Gavassini et al. (2011)allelic to MDC1A (group 2)LGMDR241.56ARLGMDR24(MDDGC8)6181353p22.1POMGNT2614828Protein O-mannose beta-1,4-N-acetylglucosaminyl transferase 2Endo et al. (2015)allelic to MDDGA8 (group 2)LGMDR25(Formerly LGMD2X)1.57ARLGMDR25(LGMD2X)6168126q21BVES(=POPDC1)604577Blood vessel epicardial substanceSchindler et al. (2016)LGMDR261.58ARLGMDR266188486q21POPDC3605824Popeye domain-containing protein 3Vissing et al. (2019)Muscular dystrophy, LGMDR271.59ARLGMDR2761956614q32.33JAG2602570Jagged 2Coppens et al. (2021)Myofibrillar myopathy 1 (Formerly LGMD2R)1.60ARMFM1601419(LGMD2R615325)2q35DES125660DesminCetin et al. (2013)allelic to formerly LGMD1 related to DES (group 1), MFM1 with or without ARCV7 (group 5), CMD1I (group 10A), ARVC7 (group 10B), myopathy, cardiomyopathy and CMS (group 11)Pompe disease(Formerly LGMD2V)1.61ARGSD223230017q25.3GAA606800Glucosidase alpha, acidPreisler et al. (2013)allelic to GSD2 (groups 9 and 10A)Muscular dystrophy with cardiomyopathy and triangular tongue(Formerly LGMD2W)1.62ARMDRCMTT(LGMD2W)6168272q14.3LIMS2(=PINCH2)607908LIM and senescent cell antigen-like domains 2Chardon et al. (2015)Muscle dystrophy with glycosylation defect, type Io1.63ARMDDGC15(CDG1O)6129371q22DPM3605951Dolichyl-phosphate mannosyltransferase polypeptide 3Lefeber et al. (2009)Scapuloperoneal muscular dystrophy and dropped head syndrome1.64AR6004169p13.3VCP601023Valosin-containingproteinLiewluck et al. (2014)allelic to IBMPFD1 (groups 4 and 5), ALS14 (group 12) and CMT2Y (group 14)(Continued on next page) Open table in a new tab Tabled 1DISEASE NAMEItem line in this groupInheritanceLocus or disease symbol and OMIM numberChromosomeGene symbol and OMIM numberProtein (mitochondrial proteins indicated by symbol [M])Key referencesOther allelic disease(s)(group in this table)LGMD with ophthalmoplegia1.65AR8q24.3PLEC601282PlectinFattahi et al. (2015)allelic to LGMDR17 (group 1), EBSMD (group 5), myasthenic syndrome related to PLEC (group 11)LGMD related to PYROXD11.66AR12p12.1PYROXD1617220Pyridine nucleotide-disulphide oxidoreductase domain 1Sainio et al. (2018)allelic to Congenital Myopathy related to PYROXD1 (group 3). MMF8 (group 5)Muscular dystrophy-dystroglycanopathy (Limb-girdle), type C121.67ARMDDGC126160948p11.21POMK615247Protein-O-mannose kinaseDi Costanzo et al. (2014)Allelic to MDDGA12 (group 2)GROUP 2. CONGENITAL MUSCULAR DYSTROPHIESCongenital muscular dystrophy with merosin deficiency2.1ARMDC1A6078556q22.33LAMA2156225Laminin 2, Heavy chain (laminin alpha2 chain of merosin)Tomé et al. (1994)Hillaire et al. (1994)Helbling-Leclerc et al. (1995)Allamand et al. (1997)allelic to LGMDR23 (group 1)Bethlem myopathy 12.2ADBTHLM115881021q22.3COL6A1120220Collagen type VI subunit alpha 1Jöbsis et al. (1996)allelic to LGMDD5 and LGMDR22 (group 1) and UCMD1 (group 2)Bethlem myopathy 12.3ADBTHLM115881021q22.3COL6A2120240Collagen type VI subunit alpha 2Jöbsis et al. (1996)allelic to LGMDD5 and LGMDR22 (group 1) and UCMD1 and Congenital myosclerosis (group 2)Bethlem myopathy 12.4ADBTHLM11588102q37.3COL6A3120250Collagen type VI subunit alpha 3Speer et al. (1996)Bertini et al. (1998)Pan et al. (1998)allelic to LGMDD5 and LGMDR22 (group 1); UCMD1 (group 2)Bethlem myopathy 12.5ARBTHLM115881021q22.3COL6A2120240Collagen type VI subunit alpha 2Gualandi et al. (2009)allelic to LGMDD5 and LGMDR22 (group 1) and UCMD1 and Congenital myosclerosis (group 2)Ullrich congenital muscular dystrophy 12.6ARUCMD125409021q22.3COL6A1120220Collagen, type VI, subunit alpha 1Pan et al. (2003)Giusti et al. (2005)allelic to LGMDD5 and LGMDR22 (group 1) and BTHLM1 (group 2)Ullrich congenital muscular dystrophy 12.7ARUCMD125409021q22.3COL6A2120240Collagen, type VI, subunit alpha 2Vanegas et al. (2001)Higuchi et al. (2001)allelic to LGMDD5 and LGMDR22 (group 1); BTHLM1 and congenital myosclerosis (group 2)Ullrich congenital muscular dystrophy 12.8ARUCMD12540902q37.3COL6A3120250Collagen type VI subunit alpha 3Demir et al. (2002)allelic to LGMDD5 and LGMDR22 (group 1) and BTHLM1 (group 2)Ullrich congenital muscular dystrophy 22.9ARUCMD26164706q13-q14COL12A1120320Collagen type XII alpha 1 chainZou et al. (2014)Allelic to BTHLM2 (group 2), CMD related to COL12A1 (group 2)Bethlem myopathy 22.10ADBTHLM26164716q13-q14COL12A1120320Collagen type XII alpha 1 chainZou et al. (2014)Allelic to UCMD2 (group 2), CMD related to COL12A1 (group 2)COL12A1-related congenital muscular dystrophy2.11AD6q13-q14COL12A1120320Collagen type XII alpha 1 chainPunetha et al. (2016)Allelic to UCMD2 (group 2), BTHLM2 (group 2)Myosclerosis, congenital2.12AR25560021q22.3COL6A2120240Collagen type VI subunit alpha 2Merlini et al. (2008)allelic to LGMDD5 and LGMDR22 (group 1); UCMD1 and BTHLM1 (group 2)Rigid spine syndrome 12.13ARRSMD16027711p36.11SELENON(formerly SEPN1)606210Selenoprotein NMoghadaszadeh et al. (1998, 2001)Ferreiro et al. (2002, 2004)allelic to CFTD (group 3), multiminicore disease (group 3), and desmin-related myopathy with Mallory bodies (group 5)Congenital muscular dystrophy due to ITGA7 deficiency2.14AR61320412q13.2ITGA7600536Integrin alpha7Hayashi et al. (1998)Congenital muscular dystrophy related to DNM22.15AD19p13.2DNM2602378Dynamin 2Susman et al. (2010)allelic to CNM1 (group 3), Distal myopathy related to DNM2 (group 4), LCCS5 (group 12) and CMTDIB (group 14)Congenital musuclar dystrophy related to TCAP2.16AR17q12TCAP604488Titin-cap (telethonin)Ferreiro et al. (2011)allelic to LGMDR7 (group 1), CMH25 (group 10A), CMD1N (group 10A)(Continued on next page) Open table in a new tab Tabled 1DISEASE NAMEItem line in this groupInheritanceLocus or disease symbol and OMIM numberChromosomeGene symbol and OMIM numberProtein (mitochondrial proteins indicated by symbol [M])Key referencesOther allelic disease(s)(group in this table)Congenital muscular dystrophy related to LMNA2.17ADMDCL6132051q22LMNA150330Lamin A/CQuijano-Roy et al. (2008)allelic to EDMD2, EDMD3 and formerly LGMD1B (group 1), CMD1A (group 10A), CMT2B1 (group 14) [+ several other phenotypes not in this table: FPLD2 #151660, HGPS #176670, restrictive dermopathy #275210, MADA #248370]CMD-DystroglycanopathiesFukuyama congenital muscular dystrophy (FCMD)2.18ARMDDGA42538009q31.2FKTN607440FukutinToda et al. (1993)Kobayashi et al. (1998)allelic to LGMDR13 (group 1), WWS/MDDGB4 (group 2), CMD1X (group 10A)Walker-Warburg syndrome (WWS)2.19ARMDDGB46131529q31.2FKTN607440FukutinBeltran-Valero de Bernabe (2003)Mercuri et al. (2009)allelic to LGMDR13 (group 1) and FCMD/MDDGA4 (group 2) and CMD1X (group 10A)Walker-Warburg syndrome (WWS)2.20ARMDDGA12366709q34.13POMT1607423Protein-O-mannosyl transferase 1Beltran-Valero De Bernabe et al. (2002)Mercuri et al. (2009)allelic to LGMDR11 (group 1), and MDDGB1 (group 2)Walker-Warburg syndrome (WWS)2.21ARMDDGA2613150MDDGB261315614q24.3POMT2607439Protein O-mannosyl transferase 2van Reeuwijk et al. (2005)Mercuri et al. (2009)allelic to LGMDR14 (group 1) and MDDGA2/MDDGB2/MEB (group 2)Walker-Warburg syndrome (WWS)2.22ARMDDGA561315319q13.32FKRP606596Fukutin related proteinBeltran-Valero De Bernabe et al. (2004)allelic to LGMDR9 (group 1), MDDGB5 (group 2), MDDGA5/MEB (group 2)Walker-Warburg syndrome (WWS)2.23ARMDDGA3253280MDDGB36131511p34.1POMGNT1606822Protein O-mannose beta1,2- N-acetylglucosaminyl transferaseTaniguchi et al. (2003)Mercuri et al. (2009)allelic to LGMDR15 (group 1) and MDDGA3/MEB (group 2)Walker-Warburg syndrome (WWS)2.24ARMDDGA76146437p21.2CRPPA614631Isoprenoid synthase domain containingRoscioli et al. (2012)Willer et al. (2012)Alletic to LGMDR20 (group 1)Walker-Warburg syndrome (WWS)2.25ARMDDGA86148303p22.1POMGNT2614828Protein O-mannose beta-1,4-N-acetylglucosaminyl transferase 2Manzini et al. (2012)allelic to LGMDR24 (group 1)Walker-Warburg syndrome (WWS)2.26ARMDDGA1361528711q13.2B4GAT1605517Beta-1,4-glucuronyl transferase 1 (Beta-1,3-N-acetylglucosaminyl transferase 1)Buysse et al. (2013)Shaheen et al. (2013)Muscle-eye-brain disease (MEB)2.27ARMDDGA32532801p34.1POMGNT1606822Protein O-mannose beta1,2- N-acetylglucosaminyl transferaseYoshida et al. (2001)Taniguchi et al. (2003)allelic to LGMDR15 (group 1) and MDDGA3/WWS (group 2)Muscle-eye-brain disease (MEB)2.28ARMDDGA561315319q13.32FKRP606596Fukutin related proteinBeltran-Valero De Bernabe et al. (2004)allelic to LGMDR9 (group 1), MDDGB5 (group 2), MDDGA5/WWS (group 2)Muscle-eye-brain disease (MEB)2.29ARMDDGA2613150MDDGB261315614q24.3POMT2607439Protein O-mannosyl transferase 2Mercuri et al. (2006)allelic to LGMDR14 (group 1) and MDDGA2/MDDGB2/WWS (group 2)Muscle-eye-brain disease (MEB)2.30ARMDDGA146153503p21.31GMPPB615320GDP-mannose pyrophosphorylase Bde Carss et al. (2013)allelic to LGMDR19 (group 1), MDDGB14 (group 2), congenital myasthenic syndrome (group 11)Muscle-eye-brain disease (MEB)2.31ADMEB11q13.2q14.111q13.2q14.1 duplicationVillar-Quiles et al. (2020)Muscular dystrophy-dystrooglycanopathy (congenital with mental retardation), type B12.32ARMDDGB16074239q34.13POMT1607423Protein-O-mannosyl transferase 1van Reeuwijk et al. (2006)Mercuri et al. (2009)allelic to LGMDR11 (group 1) and MDDGA1 (group 2)Muscular dystrophy-dystroglycanopathy, congenital with or without mental retardation (formerly MDC1C)2.33ARMDDGB560661219q13.32FKRP606596Fukutin related proteinBrockington et al. (2001b)Topaloglu et al. (2003)Mercuri et al. (2009)allelic to LGMDR9 (group 1), MDDGA5/WWS (group 2), MDDGA5/MEB (group 2)Congenital muscular dystrophy with hypoglycosylation of dystroglycan2.34ARMDDGA6613154MDDGB660884022q12.3LARGE1603590Acetylglucosaminyl-transferase-like protein (like-glycosyltransferase)Longman et al. (2003)Mercuri et al. (2009)Congenital muscular dystrophy with hypoglycosylation of dystroglycan2.35ARCDG1E60879920q13.13DPM1603503Dolichyl-phosphate mannosyltransferase 1, catalytic subunitYang et al. (2013)Congenital disorder of glycosylation type 12.36ARCDG1F60918017p13.1MPDU1604041Mannose-P-dolichol utilization defect 1van Tol et al. (2019)(Continued on next page) Open table in a new tab Tabled 1D