Phenotype of combined Duchenne and facioscapulohumeral muscular dystrophy |
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Authors: | Korngut Lawrence Siu Victoria M Venance Shannon L Levin Simon Ray Peter Lemmers Richard J L F Keith Julia Campbell Craig |
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Affiliation: | Department of Clinical Neurosciences, Foothills Medical Centre, Heritage Medical Research Building, 182A-3330 Hospital Drive NW, Calgary, Alta., Canada T2N 4N1. Korngut@gmail.com |
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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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