Manifesting carrier of X-linked Duchenne muscular dystrophy

Research output: Contribution to journalArticle

Abstract

The authors have investigated the uncommon occurrence of a boy affected with Duchenne muscular dystrophy (DMD) whose mother showed myopathic features in the clinical history, EMG, biochemical tests and muscle biopsy. This study suggests that the patient's mother is a manifesting carrier of X-linked DMD with clinical, neurophysiological, biochemical and histological findings of X-linked DMD with an almost complete inactivation of the paternal X-chromosome (lyonization).

Original languageEnglish
Pages (from-to)455-463
Number of pages9
JournalJournal of the Neurological Sciences
Volume49
Issue number3
DOIs
Publication statusPublished - 1981

ASJC Scopus subject areas

  • Ageing
  • Clinical Neurology
  • Surgery
  • Neuroscience(all)
  • Developmental Neuroscience
  • Neurology

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