Peer-reviewedCC BY-NC-NDClinical case reports
Two Additional Variants Expand the Genotypic Spectrum of Dominant Calpain‐3 Deficiencies
- 1Copenhagen Neuromuscular Center Copenhagen University Hospital Rigshospitalet, University of Copenhagen Copenhagen Denmark
- 2Department of Clinical Genetics Copenhagen University Hospital Rigshospitalet, University of Copenhagen Copenhagen Denmark
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.
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BibTeX
@article{krag2026additional,
title = {{Two Additional Variants Expand the Genotypic Spectrum of Dominant Calpain‐3 Deficiencies}},
author = {Thomas Krag and Morten Dunø and Nanna Witting and John Vissing},
journal = {Clinical case reports},
year = {2026},
month = nov,
doi = {10.1002/ccr3.73848},
url = {https://europepmc.org/article/PMC/PMC13728457},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - Two Additional Variants Expand the Genotypic Spectrum of Dominant Calpain‐3 Deficiencies
AU - Thomas Krag
AU - Morten Dunø
AU - Nanna Witting
AU - John Vissing
PY - 2026
DA - 2026/11/01
JO - Clinical case reports
DO - 10.1002/ccr3.73848
UR - https://europepmc.org/article/PMC/PMC13728457
AB - 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.
SN - 2050-0904
ER -