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Article

Expanding the phenotype of GMPPB mutations.

Brain : a journal of neurology - 1 Apr 2015

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

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscular Dystrophies, Limb-Girdle

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Source

Identifiers

PMID: 25681410
DOI: 10.1093/brain/awv013

Genes

GMPPB
FKRP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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