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• W2135865993 startingPage "836" @default.
• W2135865993 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." @default.
• W2135865993 created "2016-06-24" @default.
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• W2135865993 date "2015-02-12" @default.
• W2135865993 modified "2023-10-18" @default.
• W2135865993 title "Expanding the phenotype of GMPPB mutations" @default.
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• W2135865993 doi "https://doi.org/10.1093/brain/awv013" @default.
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