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Article

Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy.

Molecular genetics & genomic medicine - 1 Nov 2020

Cauley Edmund S, Pittman Alan, Mummidivarpu Swati, Karimiani Ehsan G, Martinez Samantha, Moroni Isabella, Boostani Reza, Podini Daniele, Mora Marina, Jamshidi Yalda, Hoffman Eric P, Manzini M Chiara

Abstract excerpt

BACKGROUND: Congenital muscular dystrophy type 1A (MDC1A), also termed merosin-deficient congenital muscular dystrophy (CMD), is a severe form of CMD caused by mutations in the laminin α2 gene (LAMA2). Of the more than 300 likely pathogenic variants found in the Leiden Open Variant Database, the majority are truncating mutations leading to complete LAMA2 loss of function, but multiple copy number variants (CNVs)...

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Share to DNA Copy Number Variations
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genetic Testing

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Share to Muscular Dystrophies, Limb-Girdle

Source

Open in PubMed Open full text

Identifiers

PMID: 32936536
DOI: 10.1002/mgg3.1387
PMCID: PMC7667317

Genes

LAMA2

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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