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GENATLAS PHENOTYPE

last update : 30-03-2011

Symbol	CMT2A2
Location	1p36.22
Name	Charcot-Marie-Tooth disease, axonal, type 2A2
Other name(s)	Charcot-Marie-Tooth neuropathy type 2A 2 hereditary motor and sensory neuropathy IIA2
Corresponding gene	MFN2
Other symbol(s)	HSM IIa, HMSN2A2
Main clinical features	distal muscle weakness and amyotrophy, sensory loss, decreased or absent tendon reflexes, axonal, with normal nerve conduction velocity, (likely a minor locus) at MRI, enhanced cellular density in cerebral white matter of MFN2 neuropathy which is primarily due to a reactive gliosis without axonal damage and possibly accompanied by mild demyelination (PMID: 18425620))
Genetic determination	autosomal dominant
Prevalence	at least a third of the cases of Charcot-Marie-Tooth disease type 2 (Loiseau 2007)
Function/system disorder	neurology
Type	disease

Gene product

Name	mitofusin 2

Remark(s)

. mutation associated to sharply reduced efficacy of oxidative phosphorylation in MFN2-related CMT2A and may contribute to the pathophysiology of the axonal neuropathy (PMID: 17444508)) potential role role for ER and ER–mitochondria juxtaposition in the pathogenesis of CMT2A2 (PMID: 19052620)) )