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Article

Sarcoglycanopathies: a multiplex molecular analysis for the most common mutations.

Diagnostic molecular pathology : the American journal of surgical pathology, part B - 1 Jun 2006

Gouveia Telma L F, Paim Julia F O, Pavanello Rita C, Zatz Mayana, Vainzof Mariz

Abstract excerpt

Sarcoglycanopathies (SGpathies) are highly frequent among severely affected limb-girdle muscular dystrophy patients. On the basis of the findings of 5 common mutations in the 4 sarcoglycan (SG) genes in the Brazilian population, we standardized a multiplex polymerase chain reaction-single-strand conformation polymorphism methodology for their concomitant analysis in DNA samples. The test was able to confirm the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscular Dystrophies, Limb-Girdle

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Source

Identifiers

PMID: 16778590
DOI: 10.1097/00019606-200606000-00006

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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.

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