A new type of distal myopathy in two brothers

J Neurol. 1981;226(3):181-5. doi: 10.1007/BF00313379.

Abstract

Two brothers are described with a distal myopathy different from the known hereditary distal myopathies. Early adult onset, beginning in the distal leg muscles with marked elevation of creatine kinase (CK) activity (20 to 30-fold) were the characteristic features. The parents of the patients had no symptoms or signs of myopathy. Their serum CK-activity was in the normal range. There was parental consanguinity, so the distal myopathy in these brothers is probably an autosomal recessive inheritance.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Humans
  • Male
  • Muscular Diseases / genetics*
  • Muscular Diseases / pathology