Type 2a1 Axonal Charcot-Marie-Tooth Disease

Also Known As:

Charcot-Marie-Tooth Disease, Axonal, Type 2a1; CMT2A1; Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a1; Charcot-Marie-Tooth Disease, Neuronal, Type 2a1; Charcot-Marie-Tooth Neuropathy, Type 2A1; HMSN IIA1; HMSN2A1; Hereditary Motor And Sensory Neuropathy IIA1

Networked: 1 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Experts

1.	Milani, Micaela: 1 article (01/2009)
2.	Mostacciuolo, Maria Luisa: 1 article (01/2009)
3.	Muglia, Maria: 1 article (01/2009)
4.	Pareyson, Davide: 1 article (01/2009)
5.	Patitucci, Alessandra: 1 article (01/2009)
6.	Quattrone, Aldo: 1 article (01/2009)
7.	Taroni, Franco: 1 article (01/2009)
8.	Vazza, Giovanni: 1 article (01/2009)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Type 2a1 Axonal Charcot-Marie-Tooth Disease:

Proteins (Proteins, Gene)FDA Link

01/01/2009 - ", mutations in the mitochondrial fusion protein 2 (MFN2) gene were reported in families with CMT2A1 and additional mutations have been detected in other studies, bringing to 42 the total number of different MFN2 mutations described thus far.2(-)4In the current study, we report a novel MFN2 mutation shared by two apparently unrelated CMT2 families originating from the same area in Southern Italy."