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Article

[Muscular dystrophy due to a deficit of gamma-sarcoglycan. A report of three patients with the Delta-521t mutation].

Revista de neurologia - 1 Jan 2000

Eirís-Puñal J, Pintos-Martínez E, Lasa A, Gallano P, Castro-Gago M

Abstract excerpt

INTRODUCTION: gamma-sarcoglicanopathies, also classified as limb girdle muscular dystrophy type 2C (LGMD2C) are a group of autosomal recessive muscular dystrophies due to mutations in 13q12 and subsequent g sarcoglican deficiency. The protein is one of the components of the dystrophin associated glycoprotein complex and is thought to impart structural integrity to the myofibre. The clinical course of the disease...

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Source

Identifiers

PMID: 12040521

Genes

DMD

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

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Muscular dystrophy due to a deficit of gamma-sarcoglycan. A report of three patients with the Delta-521t mutation].PMID 12040521Read ↗

[Gamma-sarcoglycanopathy: clinico-pathological and genetic study of 11 cases].Semantic proximity Read ↗

[Sarcoglycanopathies].Semantic proximity Read ↗

[Sarcoglycanopathies: state of the art and therapeutic perspectives].Semantic proximity Read ↗

Phenotype and sarcoglycan expression in Tunisian LGMD 2C patients sharing the same del521-T mutation.Semantic proximity Read ↗

A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies.Semantic proximity Read ↗

[Sarcoglycanopathies, a particular limb-girdle muscular dystrophy type (phenotype in three Polish families): initial report].Semantic proximity Read ↗

Sarcoglycanopathies: an update.Semantic proximity Read ↗

Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian populationSemantic proximity Read ↗

Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the gamma-sarcoglycan gene.Semantic proximity Read ↗

Phenotypic and immunohistochemical characterization of sarcoglycanopathies.Semantic proximity Read ↗

From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy.Semantic proximity Read ↗

Sarcoglycanopathies: a clinico-pathological study.Semantic proximity Read ↗

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