Patent ID: 7727717

Claim:
A method of screening a human subject for risk of Charcot-Marie-Tooth Disease Type 2A comprising: assessing a biological sample collected from said subject for the presence of mutations in the mitofusin 2 gene, wherein the mutations comprise a C to T change at position 280 or a G to A change at position 281 in the coding sequence of the mitofusin 2 gene, or a mutation in the coding sequence of the mitofusin 2 gene that results in alteration of the arginine at position 94 in an amino acid sequence of mitofusin 2; and determining whether the subject is at an increased risk of Charcot-Marie-Tooth Disease Type 2A, wherein the presence of any one of said mutations in the mitofusin 2 gene is indicative of an increased risk.