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Article

Mild muscular dystrophy due to a nonsense mutation in the LAMA2 gene resulting in exon skipping.

Brain : a journal of neurology - 1 Apr 2001

Di Blasi C, He Y, Morandi L, Cornelio F, Guicheney P, Mora M

Abstract excerpt

Nonsense mutations outside the splicing consensus sequence have been reported to cause skipping of the nonsense-containing exon in several human diseases. We describe, for the first time, nonsense-mediated exon skipping in the laminin alpha2 (LAMA2) gene. Two siblings from a consanguineous family had altered expression of the laminin alpha2 chain and moderate clinical manifestations. In both we identified the new...

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Source

Identifiers

PMID: 11287370
DOI: 10.1093/brain/124.4.698

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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Mild muscular dystrophy due to a nonsense mutation in the LAMA2 gene resulting in exon skipping.PMID 11287370Read ↗

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