title: Phenotype of combined Duchenne and facioscapulohumeral muscular dystrophy.
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.
authors.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
authors.forename: Lawrence
authors.initials: L
authors.lastname: Korngut
authors.forename: Victoria M
authors.initials: VM
authors.lastname: Siu
authors.forename: Shannon L
authors.initials: SL
authors.lastname: Venance
authors.forename: Simon
authors.initials: S
authors.lastname: Levin
authors.forename: Peter
authors.initials: P
authors.lastname: Ray
authors.forename: Richard J L F
authors.initials: RJ
authors.lastname: Lemmers
authors.forename: Julia
authors.initials: J
authors.lastname: Keith
authors.forename: Craig
authors.initials: C
authors.lastname: Campbell
mesh_terms: 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
chemical_list: D016189:Dystrophin