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

Homozygous missense variant in POPDC3 causes recessive limb-girdle muscular dystrophy type 26.

The journal of gene medicine - 1 Apr 2022

Ullah Anwar, Lin Zhaohan, Younus Muhammad, Shafiq Sarfraz, Khan Shazia, Rasheed Memoona, Mahmood Arif, Alqosaibi Amany I, Alshehri Mohammed Ali, Khan Amjad, Umair Muhammad

Abstract excerpt

BACKGROUND: Limb-girdle muscular dystrophy (LGMD) comprises a heterogeneous group of diseases, affecting different muscles, predominantly skeletal muscles and cardiac muscles of the body. LGMD is classified into two main subtypes A and B, which are further subclassified into eight dominant and thirty recessive subtypes. Three genes, namely POPDC1, POPDC2 and POPDC3, encode popeye domain-containing protein...

Read the complete abstract on PubMed

Topics

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

Share to Cell Adhesion Molecules
Share to Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscle Proteins

Share to Muscle, Skeletal

Share to Muscular Dystrophies, Limb-Girdle

Share to Mutation

Share to Mutation, Missense

Source

Identifiers

PMID: 35075722
DOI: 10.1002/jgm.3412

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

Homozygous missense variant in POPDC3 causes recessive limb-girdle muscular dystrophy type 26.PMID 35075722Read ↗

A novel splice site variant in the POPDC3 causes autosomal recessive limb-girdle muscular dystrophy type 26.Semantic proximity Read ↗

A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies.Semantic proximity Read ↗

A homozygous loss of function variant in POPDC3: From invalidating exercise intolerance to a limb-girdle muscular dystrophy phenotype.Semantic proximity Read ↗

Diagnosis and genetic testing analysis of limb-girdle muscular dystrophy type 2U caused by a compound heterozygous mutation in the ISPD gene.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 ↗

The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease.Semantic proximity Read ↗

Identification of Two Novel Variants causing Limb-Girdle and Congenital Muscular DystrophySemantic proximity Read ↗

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

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

Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular DystrophySemantic proximity Read ↗

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.Semantic proximity Read ↗

A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy.Semantic proximity Read ↗

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