Article
Phenotype of combined Duchenne and facioscapulohumeral muscular dystrophy.
Neuromuscular disorders : NMD - 1 Jul 2008
Korngut Lawrence, Siu Victoria M, Venance Shannon L, Levin Simon, Ray Peter, Lemmers Richard J L F, Keith Julia, Campbell Craig
Abstract excerpt
This case report describes a young boy with concomitant genetically-confirmed Duchenne muscular dystrophy and facioscapulohumeral muscular dystrophy with a novel dystrophin mutation in exon 6 and a D4Z4 fragment of 31 kb. This child presented with a more severe phenotype than expected for either individual disease process and underscores the role for thorough diagnostic investigation in identifying atypical...
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