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

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

Abstract 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 con...

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Bibliographic Details
Main Authors: Evelina Siavrienė, Gunda Petraitytė, Birutė Burnytė, Aušra Morkūnienė, Violeta Mikštienė, Tautvydas Rančelis, Algirdas Utkus, Vaidutis Kučinskas, Eglė Preikšaitienė
Format: Article
Language:English
Published: BMC 2021-12-01
Series:BMC Musculoskeletal Disorders
Subjects:
CAPN3
LGMDR1
cDNA assay
Splicing variant
Compound heterozygosity
Online Access:https://doi.org/10.1186/s12891-021-04920-3

Internet

https://doi.org/10.1186/s12891-021-04920-3

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