Work

Two Additional Variants Expand the Genotypic Spectrum of Dominant Calpain‐3 Deficiencies

Year: 2026

Type: article

Abstract: Limb-girdle muscular dystrophy type D4 is caused by a single pathogenic variant of the CAPN3 gene coding for calpain-3 and is clinically milder than the more common recessive form, type R1. It is likely underdiagnosed, and expanding the phenotype-genotype relationship is needed to establish a clinical guideline for this disorder.

Source: Clinical Case Reports

DOI: 10.1002/ccr3.73848

Authors: Thomas Krag, Morten Dunø, Nanna Witting, John Vissing

Institutions: University of Copenhagen, Copenhagen University Hospital, Rigshospitalet

Language: English

Topic: Muscle Physiology and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,820