title: Dominantly inherited proximal myotonic myopathy and leukoencephalopathy in a family with an incidental CLCN1 mutation.
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.
authors.affiliation: Australian Neuromuscular Research Institute, University Department of Medicine, Queen Elizabeth II Medical Centre, Nedlands, Western Australia.
authors.forename: F L
authors.initials: FL
authors.lastname: Mastaglia
authors.forename: N
authors.initials: N
authors.lastname: Harker
authors.forename: B A
authors.initials: BA
authors.lastname: Phillips
authors.forename: T J
authors.initials: TJ
authors.lastname: Day
authors.forename: G J
authors.initials: GJ
authors.lastname: Hankey
authors.forename: N G
authors.initials: NG
authors.lastname: Laing
authors.forename: V
authors.initials: V
authors.lastname: Fabian
authors.forename: B A
authors.initials: BA
authors.lastname: Kakulas
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D001927:Brain Diseases / Q000175:diagnosis / Q000235:genetics*; D002386:Cataract / Q000235:genetics*; D018118:Chloride Channels / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006115:Greece; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009124:Muscle Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009222:Myotonia / Q000235:genetics*; D013577:Syndrome
chemical_list: C086321:CLC-1 channel; D018118:Chloride Channels; D009124:Muscle Proteins