Tucci, A; Liu, YT; Preza, E; Pitceathly, RD; Chalasani, A; Plagnol, V; Land, JM; ... Houlden, H; + view all Tucci, A; Liu, YT; Preza, E; Pitceathly, RD; Chalasani, A; Plagnol, V; Land, JM; Trabzuni, D; Ryten, M; Jaunmuktane, Z; Reilly, MM; Brandner, S; Hargreaves, I; Hardy, J; Singleton, AB; Abramov, AY; Houlden, H; - view fewer (2013) Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy. Journal of Neurology, Neurosurgery & Psychiatry 10.1136/jnnp-2013-306387.

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Abstract

Charcot-Marie Tooth disease (CMT) forms a clinically and genetically heterogeneous group of disorders. Although a number of disease genes have been identified for CMT, the gene discovery for some complex form of CMT has lagged behind. The association of neuropathy and optic atrophy (also known as CMT type 6) has been described with autosomaldominant, recessive and X-linked modes of inheritance. Mutations in Mitofusin 2 have been found to cause dominant forms of CMT6. Phosphoribosylpyrophosphate synthetase-I mutations cause X-linked CMT6, but until now, mutations in the recessive forms of disease have never been identified.

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