Expanding the phenotype of GMPPB mutations

Macarena Cabrera-Serrano, R. Ghaoui, Gina Ravenscroft, R.D. Johnsen, M.R. Davis, A. Corbett, S. Reddel, C.M. Sue, C. Liang, L.B. Waddell, S. Kaur, M. Lek, K.N. North, D.G. Macarthur, Phillipa Lamont, N.F. Clarke, Nigel Laing

Research output: Contribution to journalArticlepeer-review

46 Citations (Scopus)


© 2015 The Author. 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.
Original languageEnglish
Pages (from-to)836-844
Issue number4
Early online date13 Feb 2015
Publication statusPublished - Apr 2015


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