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Article

Novel Mutation (c.8725T>C) in Two Siblings With Late-Onset LAMA2-Related Muscular Dystrophy.

Annals of laboratory medicine - 1 Jul 2017

Kim Min Wook, Jang Dae Hyun, Kang Jun, Lee Seungok, Joo Sun Young, Jang Ja Hyun, Cho Eun Hae, Choi Young Chul, Lee Jung Hwan

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28445022
DOI: 10.3343/alm.2017.37.4.359
PMCID: PMC5409025

Genes

LAMA2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

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Novel Mutation (c.8725T>C) in Two Siblings With Late-Onset LAMA2-Related Muscular Dystrophy.PMID 28445022Read ↗

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A Novel LAMA2 Mutation (c.7412G>A) Was Found in a Chinese Patient With Congenital Muscular Dystrophy.Semantic proximity Read ↗

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[Clinical features and LAMA2 mutations of patients with congenital muscular dystrophy type 1A: a case report and literature review].Semantic proximity Read ↗

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Identification of Two Novel Variants causing Limb-Girdle and Congenital Muscular DystrophySemantic proximity Read ↗

Expanding the phenotypic spectrum of LAMA2-related disorders: Axonal neuropathy in the absence of muscular dystrophy.Semantic proximity Read ↗

Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report.Semantic proximity Read ↗

Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohortSemantic proximity Read ↗

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