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Article

Prenatal diagnosis in a family affected with beta-sarcoglycan muscular dystrophy.

Neuromuscular disorders : NMD - 1 Jul 1999

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

Abstract excerpt

We present here the first prenatal diagnosis in beta-sarcoglycan muscular dystrophy. The consultand was an 11-week pregnant mother of a girl diagnosed at the age of 3 years with beta-sarcoglycan muscular dystrophy based on the identification of two nonsense mutations in her beta-sarcoglycan gene and on the absence of beta-sarcoglycan in her muscle biopsy. The direct search for these mutations in the chorionic...

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Source

Identifiers

PMID: 10407854
DOI: 10.1016/s0960-8966(99)00020-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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