Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation.

doi:10.1371/journal.pone.0170280

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

Back to search

Article

Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation.

PloS one - 1 Jan 2017

Pantoja-Melendez Carlos A, Miranda-Duarte Antonio, Roque-Ramirez Bladimir, Zenteno Juan C

Abstract excerpt

Limb-Girdle Muscular Dystrophy type 2 (LGMD2) is a group of autosomally recessive inherited disorders defined by weakness and wasting of the shoulder and pelvic girdle muscles. In the past, several population isolates with high incidence of LGMD2 arising from founder mutation effects have been identified. The aim of this work is to describe the results of clinical, epidemiologic, and molecular studies performed...

Topics

Adolescent
Adult
Aged
Amino Acid Substitution
Calpain
Child
Child, Preschool
Female
Founder Effect
Heterozygote
Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

INDEL Mutation

Infant

Infant, Newborn

Male

Mexico

Middle Aged

Source

Open in PubMed Open full text

Identifiers

PMID: 28103310
DOI: 10.1371/journal.pone.0170280
PMCID: PMC5245889

Genes

CAPN3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation.PMID 28103310Read ↗

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

Ancestral founder mutations in calpain-3 in the Indian Agarwal community: historical, clinical, and molecular perspective.Semantic proximity Read ↗

Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.Semantic proximity Read ↗

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

Calpainopathy-a survey of mutations and polymorphisms.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 ↗

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

Molecular diagnosis in LGMD2A: mutation analysis or protein testing?Semantic proximity Read ↗

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

Molecular genetic study of Calpainopathy in Iran.Semantic proximity Read ↗

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

Clinical variability in calpainopathy: what makes the difference?Semantic proximity Read ↗

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