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Article

Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene.

Neurogenetics - 1 Oct 2023

Tomforde Maike, Steinbach Meike, Haack Tobias B, Kuhlenbäumer Gregor

Abstract excerpt

Both, recessive (LGMD R1) and dominant (LGMD D4) inheritance occur in calpain 3-related muscular dystrophy. We report a family with calpain-related muscular dystrophy caused by two known variants in the calpain 3 gene (CAPN3, NM_000070.3; (I) c.700G>A, p.Gly234Arg and (II) c.1746-20C>G, p.?). Three family members are compound heterozygous and exhibit a relatively homogeneous phenotype characterized by progressive...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37589857
DOI: 10.1007/s10048-023-00728-6
PMCID: PMC10545561

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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