Prenatal diagnosis in a family affected with β-sarcoglycan muscular dystrophy

Elena Pegoraro, Marina Fanin, Corrado Angelini, Eric P. Hoffman

Research output: Contribution to journalArticlepeer-review

Abstract

We present here the first prenatal diagnosis in β-sarcoglycan muscular dystrophy. The consultand was an 11-week pregnant mother of a girl diagnosed at the age of 3 years with β-sarcoglycan muscular dystrophy based on the identification of two nonsense mutations in her β-sarcoglycan gene and on the absence of β-sarcoglycan in her muscle biopsy. The direct search for these mutations in the chorionic villus DNA of the fetus showed that the fetus did not inherit her sister mutations and thus, was reported as unaffected. We suggest that direct gene mutation detection is more reliable than linkage or protein study in the prenatal diagnosis of sarcoglycanopathies Copyright (C) 1999 Elsevier Science B.V.

Original languageEnglish
Pages (from-to)323-325
Number of pages3
JournalNeuromuscular Disorders
Volume9
Issue number5
DOIs
Publication statusPublished - Jul 1 1999

Keywords

  • gene
  • Muscular dystrophy
  • Mutation
  • Sarcoglycan

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

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