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Article

Novel compound heterozygous laminina2-chain gene (LAMA2) mutations in congenital muscular dystrophy. Mutations in brief no. 159. Online.

Human mutation - 1 Jan 1998

Mendell J T, Panicker S G, Tsao C Y, Feng B, Sahenk Z, Marzluf G A, Mendell J R

Abstract excerpt

The laminina2-chain gene (LAMA2) encodes a basal lamina protein, laminina2, known to be deficient in one form of congenital muscular dystrophy (CMD). In a laminina2 deficient-CMD patient, we screened the entire LAMA2 cDNA (953bp) by reverse transcriptase polymerase chain reaction combined with single strand conformational polymorphism analysis. Direct sequencing of aberrant conformers in this patient revealed two...

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Source

Identifiers

PMID: 10694916
DOI: 10.1002/(SICI)1098-1004(1998)12:2<135::AID-HUMU10>3.0.CO;2-6

Genes

LAMA2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Novel compound heterozygous laminina2-chain gene (LAMA2) mutations in congenital muscular dystrophy. Mutations in brief no. 159. Online.PMID 10694916Read ↗

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