A diagnostic flow chart forPOLG-related diseases based on signs sensitivity and specificity-Reference-Cited by-同舟云学术

A diagnostic flow chart forPOLG-related diseases based on signs sensitivity and specificity

Published:2014-08-11 Issue:6 Volume:86 Page:646-654
ISSN:0022-3050
Container-title:Journal of Neurology, Neurosurgery & Psychiatry
language:en
Short-container-title:J Neurol Neurosurg Psychiatry

Author:

Tchikviladzé Maya,Gilleron Mylène,Maisonobe Thierry,Galanaud Damien,Laforêt Pascal,Durr Alexandra,Eymard Bruno,Mochel Fanny,Ogier Hélène,Béhin Anthony,Stojkovic Tanya,Degos Bertrand,Gourfinkel-An Isabelle,Sedel Frederic,Anheim Mathieu,Elbaz Alexis,Viala Karine,Vidailhet Marie,Brice Alexis,Jardel Claude,Lombès Anne

Publisher

BMJ

Subject

Psychiatry and Mental health,Neurology (clinical),Surgery

Reference41 articles.

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3. Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum;Tang;J Med Genet,2011

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

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

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5. Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers;Neurological Research and Practice;2022-02-01