Article Text

PDF

Mitochondrial encephalomyopathy: variable clinical expression within a single kindred.
  1. D Crimmins,
  2. J G Morris,
  3. G L Walker,
  4. C M Sue,
  5. E Byrne,
  6. S Stevens,
  7. B Jean-Francis,
  8. C Yiannikas,
  9. R Pamphlett
  1. Department of Neurology, Westmead Hospital, Sydney, Australia.

    Abstract

    The clinical manifestations of mitochondrial encephalomyopathy are described in four generations of a single kindred. The age of onset of major neurological disturbance varied from 3-70 years. In some patients, deafness was the only manifestation; in others, recurrent bouts of status epilepticus associated with focal neurological deficits and headache, caused severe disability or death. Examples of all three adult forms of mitochondrial encephalomyopathy: MELAS, MERFF and Kearns Sayre syndrome, were represented within the kindred. Associated features included deafness, short stature, non-insulin-dependent diabetes mellitus, migraine, peptic ulceration and severe constipation. The nt 3243 A-G MELAS mutation was detected in two members of the kindred. This study highlights the diversity of clinical expression of a mitochondrial mutation within a single kindred.

    Statistics from Altmetric.com

    Request permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.