Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts

Neurology. 1994 Aug;44(8):1448-52. doi: 10.1212/wnl.44.8.1448.


We describe three families with a dominantly inherited disorder. Affected individuals have myotonia, proximal muscle weakness, and cataracts. There was no abnormal CTG repeat expansion of the myotonic dystrophy (DM) gene in DNA from blood and muscle. The structure of the three families permitted linkage analysis, and there is no linkage to the gene loci for DM or to the loci for the muscle chloride channel disorders or muscle sodium channel disorders. The collection of symptoms in these three families seems to represent a new disorder.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Aged
  • Cataract / complications
  • Cataract / genetics*
  • DNA / analysis
  • Electromyography
  • Female
  • Genetic Linkage
  • Humans
  • Male
  • Middle Aged
  • Muscular Diseases / complications
  • Muscular Diseases / genetics*
  • Muscular Diseases / physiopathology
  • Myotonia / complications
  • Myotonia / genetics*
  • Pedigree


  • DNA