Expanding the phenotypic spectrum of TRAPPC11- related muscular dystrophy: 25 Roma individuals carrying a founder variant.

Maria Justel,Cristina Jou,Andrea Sariego-Jamardo,Natalia Alexandra Juliá-Palacios,Carlos Ortez, Maria Luisa Poch,Antonio Hedrera-Fernandez, Hilario Gomez-Martin,Anna Codina,Jana Dominguez-Carral,Jordi Muxart,Aurelio Hernández-Laín,Sara Vila-Bedmar,Miren Zulaica,Ramon Cancho-Candela, Margarita Del Carmen Castro,Alberto de la Osa-Langreo,Alfonso Peña-Valenceja,Elena Marcos-Vadillo, Pablo Prieto-Matos,Samuel Ignacio Pascual-Pascual, Adolfo López de Munain,Ana Camacho,Berta Estevez-Arias,Uliana Musokhranova,Mireia Olivella,Alfonso Oyarzábal,Cecilia Jimenez-Mallebrera,Cristina Domínguez-González,Andrés Nascimento, Àngels García-Cazorla,Daniel Natera-de Benito

Journal of medical genetics（2023）

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Abstract

We provide a comprehensive phenotypic characterisation of the pathogenic variant c.1287+5G>A, which is founder in the Roma population. Our observations indicate that some typical features of golgipathies, such as microcephaly and clinical decompensation associated with infections, are prevalent in individuals with LGMD R18.

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Key words

neuromuscular diseases, genetics, population, movement disorders, epilepsy

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