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Article

Private beta- and gamma-sarcoglycan gene mutations: evidence of a founder effect in Northern Italy.

Human mutation - 1 Jan 2000

Fanin M, Hoffman E P, Angelini C, Pegoraro E

Abstract excerpt

Autosomal recessive muscular dystrophies called "sarcoglycanopathies" result from mutations in the genes encoding alpha-, beta-, gamma-, or delta-sarcoglycan complex components. The present study involved six unrelated families from Northern Italy showing mutations in the beta- or gamma-sarcoglycan genes. An 8 bp duplication in the beta-sarcoglycan gene and 1 bp insertion in the gamma-sarcoglycan gene occur with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10874299
DOI: 10.1002/1098-1004(200007)16:1<13::AID-HUMU3>3.0.CO;2-V

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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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