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Article

Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.

Neuromuscular disorders : NMD - 1 Jun 2017

Luo Sushan, Cai Shuang, Maxwell Susan, Yue Dongyue, Zhu Wenhua, Qiao Kai, Zhu Zhen, Zhou Lei, Xi Jianying, Lu Jiahong, Beeson David, Zhao Chongbo

Abstract excerpt

Mutations in the GMPPB gene may underlie both limb girdle muscular dystrophy (LGMD) and congenital myasthenic syndrome (CMS). Forty-one cases have been reported to date and hotspot mutations are emerging in the Caucasian population. Clinical and pathological features of 5 patients with compound heterozygous GMPPB mutations were collected and retrospectively reviewed. In vitro functional analysis was performed to...

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Source

Identifiers

PMID: 28433477
DOI: 10.1016/j.nmd.2017.03.004

Genes

GMPPB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

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Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.PMID 28433477Read ↗

Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.Semantic proximity Read ↗

Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.Semantic proximity Read ↗

Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.Semantic proximity Read ↗

Clinical features of the myasthenic syndrome arising from mutations in GMPPB.Semantic proximity Read ↗

A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients.Semantic proximity Read ↗

Expanding the phenotype of GMPPB mutations.Semantic proximity Read ↗

GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.Semantic proximity Read ↗

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