Article
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period.
Neuromuscular disorders : NMD - 1 Sept 2017
Sframeli Maria, Sarkozy Anna, Bertoli Marta, Astrea Guja, Hudson Judith, Scoto Mariacristina, Mein Rachael, Yau Michael, Phadke Rahul, Feng Lucy, Sewry Caroline, Fen Adeline Ngoh Seow, Longman Cheryl, McCullagh Gary, Straub Volker, Robb Stephanie, Manzur Adnan, Bushby Kate, Muntoni Francesco
Abstract excerpt
Congenital muscular dystrophies (CMDs) are clinically and genetically heterogeneous conditions; some fatal in the first few years of life and with central nervous system involvement, whereas others present a milder course. We provide a comprehensive report of the relative frequency and clinical and genetic spectrum of CMD in the UK. Genetic analysis of CMD genes in the UK is centralised in London and Newcastle....
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