Phenotype of combined Duchenne and facioscapulohumeral muscular dystrophy

Lawrence Korngut; Victoria M Siu; Shannon L Venance; Simon Levin; Peter Ray; Richard J L F Lemmers; Julia Keith; Craig Campbell

doi:10.1016/j.nmd.2008.03.011

Phenotype of combined Duchenne and facioscapulohumeral muscular dystrophy

Neuromuscul Disord. 2008 Jul;18(7):579-82. doi: 10.1016/j.nmd.2008.03.011. Epub 2008 Jun 30.

Authors

Lawrence Korngut¹, Victoria M Siu, Shannon L Venance, Simon Levin, Peter Ray, Richard J L F Lemmers, Julia Keith, Craig Campbell

Affiliation

¹ Department of Clinical Neurosciences, Foothills Medical Centre, Heritage Medical Research Building, 182A-3330 Hospital Drive NW, Calgary, Alta., Canada T2N 4N1. [email protected]

PMID: 18586493
DOI: 10.1016/j.nmd.2008.03.011

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.

Publication types

Case Reports

MeSH terms

Dystrophin / genetics
Dystrophin / metabolism
Exons / genetics
Humans
Infant
Lymphoproliferative Disorders / complications*
Lymphoproliferative Disorders / genetics
Lymphoproliferative Disorders / pathology
Male
Muscle, Skeletal / metabolism
Muscle, Skeletal / pathology
Muscular Dystrophy, Facioscapulohumeral / complications*
Muscular Dystrophy, Facioscapulohumeral / genetics
Muscular Dystrophy, Facioscapulohumeral / pathology
Mutation / genetics
Phenotype*

Substances

Dystrophin