French National Protocol for Diagnosis and Care of Calpainopathy (LGMD R1/LGMD D4): consensus guidelines for clinical practice

Abstract Background Calpainopathies, including limb-girdle muscular dystrophy recessive type 1 (LGMD R1) and the rare dominant type 4 (LGMD D4), are genetic neuromuscular disorders caused by pathogenic variants in the CAPN3 gene, which encodes calpain-3, a muscle-specific cysteine protease. This pro...

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Main Authors:	Gianmarco Severa, Sarah Souvannanorath, Iman Tahiri, Christophe Alimi, Abderhmane Slioui, Luisa Villa, Emmanuelle Salort-Campana, France Leturcq, Nathalie Streichenberger, Martin Krahn, Guilhem Solé, Léonard Feasson, Aleksandra Nadaj-Pakleza, Celine Tard, Tanya Stojkovic, Sabrina Sacconi, Edoardo Malfatti
Format:	Artigo
Language:	Inglês
Published:	BMC 2026-02-01
Series:	Orphanet Journal of Rare Diseases
Subjects:	Calpainopathy CAPN3 guidelines management
Online Access:	https://doi.org/10.1186/s13023-026-04279-5
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