Journal article
Expanding the phenotype of GMPPB mutations
Brain, Vol.138(4), pp.836-844
2015
Abstract
Dystroglycanopathies are a heterogeneous group of diseases with a broad phenotypic spectrum ranging from severe disorders with congenital muscle weakness, eye and brain structural abnormalities and intellectual delay to adult-onset limb-girdle muscular dystrophies without mental retardation. Most frequently the disease onset is congenital or during childhood. The exception is FKRP mutations, in which adult onset is a common presentation. Here we report eight patients from five non-consanguineous families where next generation sequencing identified mutations in the GMPPB gene. Six patients presented as an adult or adolescent-onset limb-girdle muscular dystrophy, one presented with isolated episodes of rhabdomyolysis, and one as a congenital muscular dystrophy. This report expands the phenotypic spectrum of GMPPB mutations to include limb-girdle muscular dystrophies with adult onset with or without intellectual disability, or isolated rhabdomyolysis.
Details
- Title
- Expanding the phenotype of GMPPB mutations
- Authors/Creators
- M. Cabrera-Serrano (Author/Creator)R. Ghaoui (Author/Creator)G. Ravenscroft (Author/Creator)R.D. Johnsen (Author/Creator)M.R. Davis (Author/Creator)A. Corbett (Author/Creator)S. Reddel (Author/Creator)C.M. Sue (Author/Creator)C. Liang (Author/Creator)L.B. Waddell (Author/Creator)S. Kaur (Author/Creator)M. Lek (Author/Creator)K.N. North (Author/Creator)D.G. MacArthur (Author/Creator)P.J. Lamont (Author/Creator)N.F. Clarke (Author/Creator)N.G. Laing (Author/Creator)
- Publication Details
- Brain, Vol.138(4), pp.836-844
- Publisher
- Oxford University Press
- Identifiers
- 991005540885707891
- Murdoch Affiliation
- Centre for Comparative Genomics
- Language
- English
- Resource Type
- Journal article
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Source: InCites
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- Collaboration types
- Domestic collaboration
- International collaboration
- Citation topics
- 1 Clinical & Life Sciences
- 1.255 Musculoskeletal Disorders
- 1.255.628 Duchenne Muscular Dystrophy
- Web Of Science research areas
- Clinical Neurology
- Neurosciences
- ESI research areas
- Neuroscience & Behavior