POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease.

Harrower T, Stewart JD, Hudson G, Houlden H, Warner G, O'Donovan DG, Findlay LJ, Taylor RW, De Silva R, Chinnery PF
Archives of neurology (2008), Volume 65, Page 133
PubMed entry Publisher's site

Abstract:

Although a molecular diagnosis is possible in most patients having ...
Although a molecular diagnosis is possible in most patients having Charcot-Marie-Tooth disease (CMT), recessively inherited and axonal neuropathies still present a diagnostic challenge.

Polymerases:

Human Pol gamma G737R,Human Pol gamma S64L,Human Pol gamma R232H

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