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

Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?

European journal of human genetics : EJHG - 1 Jan 2016

Di Fruscio Giuseppina, Garofalo Arcomaria, Mutarelli Margherita, Savarese Marco, Nigro Vincenzo

Abstract excerpt

Hundreds of variants in autosomal genes associated with the limb girdle muscular dystrophies (LGMDs) have been reported as being causative. However, in most cases the proof of pathogenicity derives from their non-occurrence in hundreds of healthy controls and/or from segregation studies in small families. The limited statistics of the genetic variations in the general population may hamper a correct...

Read the complete abstract on PubMed

Topics

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

Share to Cytoskeletal Proteins
Share to Dystrophin-Associated Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Dominant

Share to Genes, Recessive

Share to Muscular Dystrophies, Limb-Girdle

Share to Nuclear Matrix-Associated Proteins

Share to Penetrance

Source

Open in PubMed Open full text

Identifiers

PMID: 25898921
DOI: 10.1038/ejhg.2015.76
PMCID: PMC4519526

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?PMID 25898921Read ↗

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

Genetic basis of limb-girdle muscular dystrophies: the 2014 update.Semantic proximity Read ↗

Limb girdle muscular dystrophiesSemantic proximity Read ↗

Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databasesSemantic proximity Read ↗

Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect.Semantic proximity Read ↗

Genetic findings in Czech patients with limb girdle muscular dystrophy.Semantic proximity Read ↗

Update on the genetics of limb girdle muscular dystrophy.Semantic proximity Read ↗

Exclusion of identified LGMD1 loci from four dominant limb-girdle muscular dystrophy families.Semantic proximity Read ↗

The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms.Semantic proximity Read ↗

Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year's Journey.Semantic proximity Read ↗

The 10 autosomal recessive limb-girdle muscular dystrophies.Semantic proximity Read ↗

Autosomal dominant limb-girdle muscular dystrophy: a large kindred with evidence for anticipation.Semantic proximity Read ↗

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