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Expanding the phenotype of GMPPB mutations

2015; Oxford University Press; Volume: 138; Issue: 4 Linguagem: Inglês

10.1093/brain/awv013

1460-2156

Macarena Cabrera‐Serrano, Roula Ghaoui, Gianina Ravenscroft, R. Johnsen, Mark R. Davis, Alastair Corbett, Stephen Reddel, Carolyn M. Sue, Christina Liang, Leigh B. Waddell, Simranpreet Kaur, Monkol Lek, Kathryn N. North, Daniel G. MacArthur, Phillipa J. Lamont, Nigel F. Clarke, Nigel G. Laing,

Genetic Neurodegenerative Diseases

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.