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Article

Novel mutations in LAMA2 gene responsible for a severe phenotype of congenital muscular dystrophy in two Tunisian families.

Archives de l'Institut Pasteur de Tunis - 1 Jan 2006

Louhichi N, Richard P, Triki C H, Meziou M, Ayadi H, Guicheney P, Fakhfakh F

Abstract excerpt

Congenital muscular dystrophies are a group of common genetically determined disorders often transmitted with a recessive mode of inheritance. In recent years, several deficiencies of proteins from the muscle membrane, extra cellular matrix, sarcomere, muscle cytosol and the nucleus have been des...

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Source

Identifiers

PMID: 19388593

Genes

LAMA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-19388593-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Novel mutations in LAMA2 gene responsible for a severe phenotype of congenital muscular dystrophy in two Tunisian families.PMID 19388593Read ↗

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 ↗

LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes.Semantic proximity Read ↗

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

Merosin-deficient congenital muscular dystrophy: A novel homozygous mutation in the laminin-2 gene.Semantic proximity Read ↗

Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin).Semantic proximity Read ↗

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

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

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

LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients.Semantic proximity Read ↗

Clinico-genetic heterogeneity in Pakistani families affected with muscular dystrophies.Semantic proximity Read ↗

Mild Congenital Muscular Dystrophy in Two Patients with an Internally Deleted Laminin 2-ChainSemantic proximity Read ↗

Clinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients’ cohort from Qatar. A population specific founder variantSemantic proximity Read ↗

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