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Article

Autosomal dominant calpainopathy due to heterozygous CAPN3 C.643_663del21.

Muscle & nerve - 1 Apr 2018

Martinez-Thompson Jennifer M, Niu Zhiyv, Tracy Jennifer A, Moore Steven A, Swenson Andrea, Wieben Eric D, Milone Margherita

Abstract excerpt

INTRODUCTION: A calpain-3 (CAPN3) gene heterozygous deletion (c.643_663del21) was recently linked to autosomal dominant (AD) limb-girdle muscular dystrophy. However, the possibility of digenic disease was raised. We describe 3 families with AD calpainopathy carrying this isolated mutation. METHODS: Probands heterozygous for CAPN3 c.643_663del21 were identified by targeted next generation or whole exome...

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Source

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Identifiers

PMID: 28881388
DOI: 10.1002/mus.25970
PMCID: PMC5915624

Genes

CAPN3

Variants

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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