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

A novel CAPN3 mutation in late-onset limb-girdle muscular dystrophy with early respiratory insufficiency.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Jul 2018

Martinez-Thompson Jennifer M, Moore Steven A, Liewluck Teerin

Abstract excerpt

We describe a 70 year-old independently ambulatory man with a 10-year history of progressive axial and limb-girdle weakness, hyperCKemia, and a 5-year history of dyspnea requiring nocturnal ventilatory support due to a known c.1309C>T (p.Arg437Cys) variant and a novel in-frame deletion of exons 17-19 in the calpain-3 encoding gene (CAPN3). Pulmonary function tests revealed neuromuscular respiratory weakness....

Read the complete abstract on PubMed

Topics

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

Share to Aged
Share to Biopsy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Calpain

Share to Muscle Proteins

Share to Muscular Dystrophies, Limb-Girdle

Share to Mutation

Share to Respiratory Insufficiency

Source

Open in PubMed Open full text

Identifiers

PMID: 29685414
DOI: 10.1016/j.jocn.2018.04.025
PMCID: PMC6792001

Genes

CAPN3

Variants

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

A novel CAPN3 mutation in late-onset limb-girdle muscular dystrophy with early respiratory insufficiency.PMID 29685414Read ↗

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

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

Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations.Semantic proximity Read ↗

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

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

A heterozygous 21-bp deletion in<i>CAPN3</i>causes dominantly inherited limb girdle muscular dystrophySemantic proximity Read ↗

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

Limb-girdle muscular dystrophy 2A.Semantic proximity Read ↗

CAPN3: A muscle‑specific calpain with an important role in the pathogenesis of diseases (Review)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 ↗

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