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

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

Molecular medicine reports - 1 Jun 2021

Zhang Cheng, Zheng Xueping, Lu Deguo, Xu Lulu, Che Fengyuan, Liu Shiguo

Abstract excerpt

Limb-girdle muscular dystrophy recessive 1 (LGMDR1), a rare subtype of muscular dystrophy, is characterized by progressive muscle weakness and degeneration with a predominant presentation on the shoulder, pelvic and proximal limb muscles. Variants in calcium-activated neutral proteinase 3 (CAPN3), which encodes an enzyme, calpain 3, are considered the major cause of LGMDR1. The present study was conducted 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 Heterozygote
Share to Muscle Proteins

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Muscular Dystrophies, Limb-Girdle

Share to Pedigree

Share to Phenotype

Share to Protein Domains

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 33899113
DOI: 10.3892/mmr.2021.12119
PMCID: PMC8097764

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Compound heterozygous CAPN3 variants identified in a family with limb-girdle muscular dystrophy recessive 1.PMID 33899113Read ↗

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 ↗

Mutations of CAPN3 in Korean patients with limb-girdle muscular dystrophy.Semantic proximity Read ↗

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

Limb-girdle muscular dystrophy type 2a with mutation in CAPN3: the first report in Taiwan.Semantic proximity Read ↗

Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective.Semantic proximity Read ↗

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

Two Novel Variants of the CAPN3 Gene in Chinese Patients with Limb-Girdle Muscular Dystrophy Recessive 1.Semantic proximity Read ↗

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

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

A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb-girdle muscular dystrophy-1 in three Pakistani pedigrees.Semantic proximity Read ↗

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

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