Dominantly inherited proximal myotonic myopathy and leukoencephalopathy in a family with an incidental CLCN1 mutation
Mastaglia, F.L., Harker, N., Phillips, B.A., Day, T.J., Hankey, G.J., Laing, N.G., Fabian, V. and Kakulas, B.A. (1998) Dominantly inherited proximal myotonic myopathy and leukoencephalopathy in a family with an incidental CLCN1 mutation. Journal of Neurology, Neurosurgery & Psychiatry, 64 (4). pp. 543-547.
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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.
|Publication Type:||Journal Article|
|Publisher:||BMJ Publishing Group|
|Copyright:||© 1998 by the BMJ Publishing Group Ltd.|
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