Dominantly inherited proximal myotonic myopathy and leukoencephalopathy in a family with an incidental CLCN1 mutation

F.L. Mastaglia; N. Harker; B.A. Phillips; T.J. Day; G.J. Hankey; N.G. Laing; V. Fabian; B.A. Kakulas

doi:10.1136/jnnp.64.4.543

Back

Dominantly inherited proximal myotonic myopathy and leukoencephalopathy in a family with an incidental CLCN1 mutation

Journal article

Peer reviewed

Dominantly inherited proximal myotonic myopathy and leukoencephalopathy in a family with an incidental CLCN1 mutation

F.L. Mastaglia, N. Harker, B.A. Phillips, T.J. Day, G.J. Hankey, N.G. Laing, V. Fabian and B.A. Kakulas

Journal of Neurology, Neurosurgery & Psychiatry, Vol.64(4), pp.543-547

1998

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

Files and links (1)

url

Link to Published Version *Subscription may be requiredView

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.

Details

Title: Dominantly inherited proximal myotonic myopathy and leukoencephalopathy in a family with an incidental CLCN1 mutation
Authors/Creators: F.L. Mastaglia (Author/Creator) - Centre for Neuromuscular and Neurological Disorders
N. Harker (Author/Creator)
B.A. Phillips (Author/Creator)
T.J. Day (Author/Creator)
G.J. Hankey (Author/Creator)
N.G. Laing (Author/Creator) - UWA Centre for Medical Research
V. Fabian (Author/Creator) - UWA Centre for Medical Research
B.A. Kakulas (Author/Creator) - Centre for Neuromuscular and Neurological Disorders
Publication Details: Journal of Neurology, Neurosurgery & Psychiatry, Vol.64(4), pp.543-547
Publisher: BMJ Publishing Group
Identifiers: 991005540232807891
Copyright: © 1998 by the BMJ Publishing Group Ltd.
Murdoch Affiliation: Murdoch University
Language: English
Resource Type: Journal article

UN Sustainable Development Goals (SDGs)

This output has contributed to the advancement of the following goals:

Source: InCites

Metrics

58 Record Views

13 Times Cited - Web of Science

InCites Highlights

These are selected metrics from InCites Benchmarking & Analytics tool, related to this output

Collaboration types: Domestic collaboration
Citation topics: 1 Clinical & Life Sciences; 1.79 Molecular & Cell Biology - Physiology; 1.79.1811 Myotonic Dystrophy Mechanisms
Web Of Science research areas: Clinical Neurology; Psychiatry; Surgery
ESI research areas: Clinical Medicine