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Article

LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.

Archives of neurology - 1 Oct 2005

Di Blasi Claudia, Piga Daniela, Brioschi Paolo, Moroni Isabella, Pini Antonella, Ruggieri Alessandra, Zanotti Simona, Uziel Graziella, Jarre Laura, Della Giustina Elvio, Scuderi Carmela, Jonsrud Christoffer, Mantegazza Renato, Morandi Lucia, Mora Marina

Abstract excerpt

OBJECTIVE: To determine if laminin-alpha2 deficiency is due to mutations in the LAMA2 gene or secondary to mutations in other congenital muscular dystrophy genes. METHODS: We performed molecular analysis of LAMA2, by single-strand conformation polymorphism and sequencing, in 15 patients with undetectable or greatly reduced laminin-alpha2 expression. We also performed 4 prenatal diagnoses and investigated a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16216942
DOI: 10.1001/archneur.62.10.1582

Genes

LAMA2
FKRP

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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LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.PMID 16216942Read ↗

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