Limb girdle muscular dystrophy with autosomal dominant inheritance

G. Marconi, A. Pizzi, C. G. Arimondi, B. Vannelli

Research output: Contribution to journalArticlepeer-review

Abstract

We describe a patient suffering from limb-girdle muscular dystrophy with autosomal dominant inheritance proved by the presence of other similar cases in both sexes scattered over 4 generations of his family tree. In all patients the symptoms appeared in adult age and pelvi-femoral preceded scapulo-humeral involvement. Clinical expressivity has been variable, but rather benign without any reduction in life expectancy. Myopathic changes with vacuoles were present in muscle on light and electron microscopic examination. In the literature we found at least another 5 genealogies with autosomal dominant LGMD which had similar clinical and pathological features to those of our patient.

Original languageEnglish
Pages (from-to)234-238
Number of pages5
JournalActa Neurologica Scandinavica
Volume83
Issue number4
Publication statusPublished - 1991

Keywords

  • Autosomal dominant inheritance
  • Limb girdle muscolar dystrophy

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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