Two sisters with a Charcot-Marie-Tooth disease type 1A (CMT1A) duplication, who had an unusual CMT1A clinical phenotype, are described. The 63-year-old proband presented with dysesthesia on the inner side of the right leg. Neurological examination revealed a localized sensory disturbance in the lowe
Mitochondrial coupling defect in Charcot–Marie–Tooth type 2A disease
✍ Scribed by Dominique Loiseau; Arnaud Chevrollier; Christophe Verny; Virginie Guillet; Naïg Gueguen; Marie-Anne Pou De Crescenzo; Marc Ferré; Marie-Claire Malinge; Agnès Guichet; Guillaume Nicolas; Patrizia Amati-Bonneau; Yves Malthièry; Dominique Bonneau; Pascal Reynier
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 357 KB
- Volume
- 61
- Category
- Article
- ISSN
- 0364-5134
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