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Article

Compound heterozygous c.598_612del and c.1746-20C > G CAPN3 genotype cause autosomal recessive limb-girdle muscular dystrophy-1: a case report.

BMC musculoskeletal disorders - 4 Dec 2021

Siavrienė Evelina, Petraitytė Gunda, Burnytė Birutė, Morkūnienė Aušra, Mikštienė Violeta, Rančelis Tautvydas, Utkus Algirdas, Kučinskas Vaidutis, Preikšaitienė Eglė

Abstract excerpt

BACKGROUND: Autosomal recessive limb-girdle muscular dystrophy-1 (LGMDR1), also known as calpainopathy, is a genetically heterogeneous disorder characterised by progression of muscle weakness. Homozygous or compound heterozygous variants in the CAPN3 gene are known genetic causes of this condition. The aim of this study was to confirm the molecular consequences of the CAPN3 variant...

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Identifiers

PMID: 34863162
DOI: 10.1186/s12891-021-04920-3
PMCID: PMC8645139

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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