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Article

Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.

Neuromuscular disorders : NMD - 1 Jul 2017

Balcin Hasan, Palmio Johanna, Penttilä Sini, Nennesmo Inger, Lindfors Mikaela, Solders Göran, Udd Bjarne

Abstract excerpt

Mutations in GMPPB gene have been reported in patients with early-onset disease ranging from severe congenital muscular dystrophies to limb-girdle muscular dystrophy (LGMD) with mental retardation. More recently mutations in GMPPB have been identified with congenital myasthenic syndromes as well as milder phenotypes. We report two unrelated cases with LGMD that underwent clinical, histopathological and genetic...

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Source

Identifiers

PMID: 28478914
DOI: 10.1016/j.nmd.2017.04.006

Genes

GMPPB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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