Article
Friedreich's ataxia mimicking hereditary motor and sensory neuropathy.
Journal of neurology - 1 Nov 2002
Panas Marios, Kalfakis Nikolaos, Karadima Georgia, Davaki Panagiota, Vassilopoulos Demetris
Abstract excerpt
Four patients from three unrelated families, with clinical and electrophysiological findings compatible with the diagnosis of hereditary motor and sensory neuropathy, are presented. The molecular analysis showed that the affected individuals were homozygous for the mutation in the X25 gene, characteristic of Friedreich's ataxia. These patients seem to represent a form of Friedreich's ataxia mimicking...
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