Expanding the phenotype of GMPPB mutations.
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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. |
Year of Publication | 2015
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Journal | Brain
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Volume | 138
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Issue | Pt 4
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Pages | 836-44
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Date Published | 2015 Apr
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ISSN | 1460-2156
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URL | |
DOI | 10.1093/brain/awv013
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PubMed ID | 25681410
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