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Dominantly inherited proximal myotonic myopathy and leukoencephalopathy in a family with an incidental CLCN1 mutation
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 t...
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| Main Authors: | , , , , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
BMJ Group
1998
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2170056/ https://ncbi.nlm.nih.gov/pubmed/9576553 |
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