Bergamin, Giorgia

Novel mutation of the mitofusin 2 gene in a family with Charcot-Marie-Tooth disease type 2. [electronic resource] - Muscle & nerve Jan 2014 - 145-6 p. digital

Publication Type: Case Reports; Letter

1097-4598

10.1002/mus.23985 doi


Adult
Aged
Amino Acid Sequence
Charcot-Marie-Tooth Disease--diagnosis
Female
GTP Phosphohydrolases--analysis
Humans
Mitochondrial Proteins--analysis
Molecular Sequence Data
Mutation, Missense--genetics
Pedigree