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Article

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

Journal of human genetics - 1 Jul 2026

Mohammadi Mahsa, Rahimoghli Mahdieh, Ghasemi Aida, Okhovat Ali Asghar, Alavi Afagh

Abstract excerpt

The LAMA2 gene encodes the alpha-2 chain of laminin-2, a key component of the basement membrane that maintains muscle fiber stability and integrity. Mutations in this gene are linked with LAMA2-related muscular dystrophies, which includes congenital muscular dystrophy type 1 A (MDC1A) and limb-girdle muscular dystrophy autosomal recessive 23 (LGMDR23). Here, we present two siblings from one of 200 unrelated...

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Identifiers

PMID: 41765988
DOI: 10.1038/s10038-026-01467-w

Genes

LAMA2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Expanding the phenotypic spectrum of LAMA2-related disorders: Axonal neuropathy in the absence of muscular dystrophy.PMID 41765988Read ↗

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