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Article

Assessment of the 50-kDa dystrophin-associated glycoprotein in Brazilian patients with severe childhood autosomal recessive muscular dystrophy.

Journal of the neurological sciences - 1 May 1994

Zatz M, Matsumura K, Vainzof M, Passos-Bueno M R, Pavanello R C, Marie S K, Campbell K P

Abstract excerpt

Recently, we have demonstrated the specific deficiency of the 50-kDa dystrophin-associated glycoprotein (50DAG) in severe childhood autosomal recessive muscular dystrophy with Duchenne-like phenotype (SCARMD or AR-DLMD), a disease first reported in Tunisia and now presumed to be prevalent in Nort...

Topics

Adolescent
Age of Onset
Biopsy
Brazil
Child
Cytoskeletal Proteins
Female
Genes, Recessive
Humans
Immunohistochemistry
Male
Membrane Glycoproteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Muscles

Muscular Dystrophies

Phenotype

Sarcoglycans

Source

Identifiers

PMID: 8064304
DOI: 10.1016/0022-510x(94)90213-5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8064304-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Assessment of the 50-kDa dystrophin-associated glycoprotein in Brazilian patients with severe childhood autosomal recessive muscular dystrophy.PMID 8064304Read ↗

Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12.Semantic proximity Read ↗

[Severe childhood autosomal recessive muscular dystrophy].Semantic proximity Read ↗

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