The wide POLG-related spectrum: An integrated view-Reference-Cited by-同舟云学术

The wide POLG-related spectrum: An integrated view

Published:2016-09 Issue: Volume:368 Page:70-76
ISSN:0022-510X
Container-title:Journal of the Neurological Sciences
language:en
Short-container-title:Journal of the Neurological Sciences

Author:

Béreau M.,Anheim M.,Echaniz-Laguna A.,Magot A.,Verny C.,Goideau-Sevrain M.,Barth M.,Amati-Bonneau P.,Allouche S.,Ayrignac X.,Bédat-Millet A.-L.,Guyant-Maréchal L.,Kuntzer T.,Ochsner F.,Petiot P.,Vial C.,Omer S.,Sole G.,Taieb G.,Carvalho N.,Tio G.,Kremer S.,Acquaviva-Bourdain C.,de Camaret B. Mousson,Tranchant C.

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology

Reference25 articles.

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2. Horga A, Pitceathly RD, Blake JC, Woodward CE, Zapater P, Fratter C, Mudanohwo EE, Plant GT, Houlden H, Sweeney MG, Hanna MG, Reilly MM Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia. Brain 137 (Pt 12):3200–3212 (doi: awu279 [pii] 1093/brain/awu279 [doi]).

3. Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia;Van Goethem;Neuromuscul. Disord.,2003

4. Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin;Hakonen;Am. J. Hum. Genet.,2005

5. The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases;Tzoulis;Brain,2006

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