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Article

The CAPN3 p.Lys 254del variant is not always associated with dominant CAPN3-related muscular dystrophy.

Muscle & nerve - 1 Apr 2024

Valls Andrea, Gutiérrez-Gutiérrez Gerardo, Martínez Agustín, Ruiz-Roldán Cristina, Camaño Pilar, López de Munain Adolfo, Sáenz Amets

Abstract excerpt

INTRODUCTION/AIMS: Limb-girdle muscular dystrophy R1 (LGMDR1) calpain 3-related usually presents as a recessively transmitted weakness of proximal limb-girdle muscles due to pathogenic variants in the CAPN3 gene. Pathogenic variants in this gene have also been found in patients with an autosomal dominantly inherited transmission pattern (LGMDD4). The mechanism underlying this difference in transmission patterns...

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PMID: 38299438
DOI: 10.1002/mus.28045

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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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The CAPN3 p.Lys 254del variant is not always associated with dominant CAPN3-related muscular dystrophy.PMID 38299438Read ↗

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