Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period.

Maria Sframeli,Anna Sarkozy,Marta Bertoli,Guja Astrea,Judith Hudson,Mariacristina Scoto,Rachael Mein,Michael Yau,Rahul Phadke,Lucy Feng,Caroline Sewry,Adeline Ngoh Seow Fen,Cheryl Longman,Gary McCullagh,Volker Straub,Stephanie Robb,Adnan Manzur,Kate Bushby,Francesco Muntoni

Neuromuscular Disorders（2017）

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摘要

•We report the relative frequency, clinical and genetic spectrum of CMD in the UK.•We describe clinical and molecular data for 249 unrelated CMD patients.•MCD1A is the prevalent CMD in the UK followed by dystroglycanopathies and Ullrich CMD.•We report 363 mutations in CMD genes, 160 of which are novel.

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关键词

Congenital muscular dystrophy,Prevalence,Dystroglycanopathies,ISPD,GMPPB,B3GALTN2,COL6A1-A2-A3,LAMA2,SEPN1,LMNA

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