Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Limb-Girdle Muscular Dystrophy Type 2A Resulting From c.C479G and c.G1818A Mutations in the Calpain-3 Gene.

Journal of clinical neuromuscular disease - 1 Dec 2015

Ramos Edwardo, Pardo Sherly, Mas Rodríguez Manuel F, Vélez John

Abstract excerpt

Limb-Girdle Muscular Dystrophy type 2A (LGMD2A) is an autosomal recessive disorder characterized by progressive weakness of proximal muscles. Here, we describe a patient with clinical features consistent with LGMD2A who harbors 2 rare changes in the CAPN3 gene sequence of unknown clinical significance. Mechanisms by which these 2 mutations could affect the protein are discussed. The c.C479G mutation seems to...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Calpain
Share to Child
Share to CAPN3 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscle Proteins

Share to Muscular Dystrophies, Limb-Girdle

Share to Mutation

Source

Identifiers

PMID: 26583491
DOI: 10.1097/CND.0000000000000097

Genes

CAPN3

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Limb-Girdle Muscular Dystrophy Type 2A Resulting From c.C479G and c.G1818A Mutations in the Calpain-3 Gene.PMID 26583491Read ↗

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

CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related.Semantic proximity Read ↗

Calpainopathy-a survey of mutations and polymorphisms.Semantic proximity Read ↗

Identification of novel pathogenic variants of Calpain-3 gene in limb girdle muscular dystrophy R1.Semantic proximity Read ↗

LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.Semantic proximity Read ↗

Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India.Semantic proximity Read ↗

Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families.Semantic proximity Read ↗

A retrospective study on the clinical and molecular outcomes of calpainopathy in a Turkish patient cohort.Semantic proximity Read ↗

Compound heterozygous CAPN3 variants identified in a family with limb-girdle muscular dystrophy recessive 1.Semantic proximity Read ↗

cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark.Semantic proximity Read ↗

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.Semantic proximity Read ↗

Limb-girdle muscular dystrophy type 2A resulting from homozygous G2338C transversion mutation in the calpain-3 gene.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.