| Literature DB >> 12420100 |
Marios Panas1, Nikolaos Kalfakis, Georgia Karadima, Panagiota Davaki, Demetris Vassilopoulos.
Abstract
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 Charcot-Marie-Tooth disease.Entities:
Mesh:
Year: 2002 PMID: 12420100 DOI: 10.1007/s00415-002-0902-2
Source DB: PubMed Journal: J Neurol ISSN: 0340-5354 Impact factor: 4.849