Phenotype of combined Duchenne and facioscapulohumeral muscular dystrophy.
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.
Korngut
Lawrence
L
Department of Clinical Neurosciences, Foothills Medical Centre, Heritage Medical Research Building, 182A-3330 Hospital Drive NW, Calgary, Alta., Canada T2N 4N1. Korngut@gmail.com
Siu
Victoria M
VM
Venance
Shannon L
SL
Levin
Simon
S
Ray
Peter
P
Lemmers
Richard J L F
RJ
Keith
Julia
J
Campbell
Craig
C
D016189:Dystrophin / Q000235:genetics / Q000378:metabolism; D005091:Exons / Q000235:genetics; D006801:Humans; D007223:Infant; D008232:Lymphoproliferative Disorders / Q000150:complications* / Q000235:genetics / Q000473:pathology; D008297:Male; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000150:complications* / Q000235:genetics / Q000473:pathology; D009154:Mutation / Q000235:genetics; D010641:Phenotype
D016189:Dystrophin