A novel emerin gene mutation in Emery Dreifuss muscular dystrophy patient with spontaneous chordae tendinae rupture.

Elia Pancheri,Silvia Bozzetti,Paola Rimessi,Francesco Macchione,Marco Barillari,Anna Venturoli,Valeria Guglielmi,Fernanda Fortunato,Paola Tonin,Gaetano Vattemi

Clinical Neurology and Neurosurgery（2019）

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摘要

•X-linked EDMD may occur with spontaneous chordae tendinae rupture.•Lower facial and intrinsic hand muscles may be involved early in EDMD.•EDMD patient was clinically misdiagnosed as spinal muscular atrophy type 3.•A never reported genomic deletion resulting in a frameshift mutation in the EMD gene.

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关键词

Emery Dreifuss muscular dystrophy,Emerin,Tendineous contractures,Spontaneous chordae tendinae rupture,Junctional escape rhythm,Spinal muscular atrophy type 3

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