Novel Homozygous Missense Mutation in CAPN3 Gene Detected in a Saudi Arabian Family With Limb-Girdle Muscular Dystrophy Type 2A.

doi:10.1097/CND.0000000000000129

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Article

Novel Homozygous Missense Mutation in CAPN3 Gene Detected in a Saudi Arabian Family With Limb-Girdle Muscular Dystrophy Type 2A.

Journal of clinical neuromuscular disease - 1 Dec 2016

Al-Harbi Talal M, Abdulmanaʼ Sameeh O, Dridi Walid

Abstract excerpt

More than 300 mutations were identified in Calpainopathy (CAPN3) gene in limb-girdle muscular dystrophy type 2A (LGMD2A) patients. LGMD2A type is also known as Calpainopathy, which is characterized by selective atrophy and weakness of proximal limb muscles. We report a Saudi Arabian family with weakness in limb-girdle distribution: waddling gait, positive Gowers' sign, and marked muscle atrophy in the shoulder...

Topics

Calpain
Female
Homozygote
Humans
Male
Muscle Proteins
Muscular Dystrophies, Limb-Girdle
Mutation, Missense
Pedigree
Phenotype
Saudi Arabia
Siblings
Young Adult

Source

Open in PubMed

Identifiers

PMID: 27861222
DOI: 10.1097/CND.0000000000000129

Genes

CAPN3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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