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

Muscle phenotypic variability in limb girdle muscular dystrophy 2 G.

Journal of molecular neuroscience : MN - 1 Jun 2013

Paim Julia F, Cotta Ana, Vargas Antonio P, Navarro Monica M, Valicek Jaquelin, Carvalho Elmano, da-Cunha Antonio L, Plentz Estevão, Braz Shelida V, Takata Reinaldo I, Almeida Camila F, Vainzof Mariz

Abstract excerpt

Limb girdle muscular dystrophy type 2 G (LGMD2G) is caused by mutations in the telethonin gene. Only few families were described presenting this disease, and they are mainly Brazilians. Here, we identified one additional case carrying the same common c.157C > T mutation in the telethonin gene but with an atypical histopathological muscle pattern. In a female patient with a long duration of symptoms (46 years),...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Connectin

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mitochondria

Share to Muscle Fibers, Skeletal

Share to Muscular Dystrophies, Limb-Girdle

Share to Phenotype

Share to Polymorphism, Single Nucleotide

Share to Sarcolemma

Source

Identifiers

PMID: 23479141
DOI: 10.1007/s12031-013-9987-6

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

Muscle phenotypic variability in limb girdle muscular dystrophy 2 G.PMID 23479141Read ↗

Limb-girdle muscular dystrophy in a Portuguese patient caused by a mutation in the telethonin gene.Semantic proximity Read ↗

An update on diagnostic options and considerations in limb-girdle dystrophies.Semantic proximity Read ↗

Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient.Semantic proximity Read ↗

Findings of limb-girdle muscular dystrophy R7 telethonin-related patients from a Chinese neuromuscular center.Semantic proximity Read ↗

A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature.Semantic proximity Read ↗

The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients.Semantic proximity Read ↗

Limb Girdle Muscular Dystrophy Associated With TRIM32 Variants: A National Cohort Study.Semantic proximity Read ↗

Clinical phenotype, muscle MRI and muscle pathology of LGMD1F.Semantic proximity Read ↗

Clinical, demographic and genetic features of pediatric limb-girdle muscular dystrophy in the Çukurova region.Semantic proximity Read ↗

Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization.Semantic proximity Read ↗

Clinical and molecular characterization of limb-girdle muscular dystrophy 2G/R7 in a large cohort of Brazilian patients.Semantic proximity Read ↗

Very late-onset limb-girdle muscular dystrophy type 2D: A milder form with a normal muscle biopsy.Semantic proximity Read ↗

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