PT  - JOURNAL ARTICLE
AU  - F L Mastaglia
AU  - N Harker
AU  - B A Phillips
AU  - T J Day
AU  - G J Hankey
AU  - N G Laing
AU  - V Fabian
AU  - B A Kakulas
TI  - Dominantly inherited proximal myotonic myopathy and leukoencephalopathy in a family with an incidental CLCN1 mutation
AID  - 10.1136/jnnp.64.4.543
DP  - 1998 Apr 01
TA  - Journal of Neurology, Neurosurgery & Psychiatry
PG  - 543--547
VI  - 64
IP  - 4
4099  - http://jnnp.bmj.com/content/64/4/543.short
4100  - http://jnnp.bmj.com/content/64/4/543.full
SO  - J Neurol Neurosurg Psychiatry1998 Apr 01; 64
AB  - 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.