Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3081432 | Neuromuscular Disorders | 2008 | 4 Pages |
Abstract
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 clinical presentations.
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Authors
Lawrence Korngut, Victoria M. Siu, Shannon L. Venance, Simon Levin, Peter Ray, Richard J.L.F. Lemmers, Julia Keith, Craig Campbell,