Article
MFN2 mutations cause severe phenotypes in most patients with CMT2A.
Neurology - 17 May 2011
Feely S M E, Laura M, Siskind C E, Sottile S, Davis M, Gibbons V S, Reilly M M, Shy M E
Abstract excerpt
BACKGROUND: Charcot-Marie-Tooth disease type 2A (CMT2A), the most common form of CMT2, is caused by mutations in the mitofusin 2 gene (MFN2), a nuclear encoded gene essential for mitochondrial fusion and tethering the endoplasmic reticulum to mitochondria. Published CMT2A phenotypes have differed widely in severity. METHODS: To determine the prevalence and phenotypes of CMT2A within our clinics we performed...
Topics
- Action Potentials
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Charcot-Marie-Tooth Disease
- Child
- Child, Preschool
- Cohort Studies
- DNA
- Electrophysiological Phenomena
- Female