Patent ID: 8206922

Claim:
A method of screening a human subject for risk of Charcot-Marie-Tooth Disease Type 2A comprising: analyzing a biological sample collected from said subject to detect the presence of a missense mutation in the GTPase domain of the mitofusin 2 gene that comprises a C to G change at position 751 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 proline at position 251 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 the missense mutation in the GTPase domain of the mitofusin 2 gene is indicative of an increased risk.