Large kindred evaluation of mitofusin 2 novel mutation, extremes of neurologic presentations, and preserved nerve mitochondria
CJ Klein, GW Kimmel, SJ Pittock… - Archives of …, 2011 - jamanetwork.com
Background Mitofusin 2 (MFN2) is a mitochondrial membrane protein mediating
mitochondrial fusion and function. Mutated MFN2 is responsible for Charcot-Marie-Tooth
type 2A2. In small kindreds, specific MFN2 mutations have been reported to associate with
severity of axonal neuropathy, optic atrophy, and involvement of the central nervous system.
The results of the nerve biopsy specimens suggested that the mitochondria are structurally
abnormal in patients with MFN2 mutations. Objective To study a newly identified MFN2 …
mitochondrial fusion and function. Mutated MFN2 is responsible for Charcot-Marie-Tooth
type 2A2. In small kindreds, specific MFN2 mutations have been reported to associate with
severity of axonal neuropathy, optic atrophy, and involvement of the central nervous system.
The results of the nerve biopsy specimens suggested that the mitochondria are structurally
abnormal in patients with MFN2 mutations. Objective To study a newly identified MFN2 …