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Dominantly inherited proximal myotonic myopathy and leukoencephalopathy in a family with an incidental CLCN1 mutation
  1. F L Mastaglia,
  2. N Harker,
  3. B A Phillips,
  4. T J Day,
  5. G J Hankey,
  6. N G Laing,
  7. V Fabian,
  8. B A Kakulas
  1. Australian Neuromuscular Research Institute, University Department of Medicine, and Department of Neurology and Clinical Neurophysiology, Queen Elizabeth II Medical Centre, Departments of Neurology and Neuropathology, Royal Perth Hospital, Western Australia
  1. Professor F L Mastaglia, Department of Medicine, Queen Elizabeth II Medical Centre, Nedlands, Western Australia 6009, Australia.

Abstract

A two generation family of Greek origin with mild myotonia, predominantly proximal muscle weakness, and cataracts compatible with the syndrome of proximal myotonic myopathy, is reported. In addition, brain MRI showed a diffuse leukoencephalopathy in the propositus. Molecular genetic studies showed the R894X mutation in exon 23 of the muscle chloride channel gene in the propositus but in only one of her two clinically affected offspring, indicating that it is not the mutation causing disease in this family.

  • proximal myotonic myopathy
  • leukoencephalopathy
  • CLCN1 mutation

https://doi.org/10.1136/jnnp.64.4.543

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