RRM2B MUTATIONS ARE FREQUENT IN FAMILIAL PEO WITH MULTIPLE mtDNA DELETIONS

• Published in: Neurology Vol. 76; no. 23; pp. 2032 - 2034
• Main Authors: FRATTER, C, RAMAN, P, POULTON, J, BRIERLEY, C, STAUNTON, T. G, TURNPENNY, P. D, SCHAEFER, A. M, CHINNERY, P. F, HORVATH, R, TURNBULL, D. M, GORMAN, G. S, TAYLOR, R. W, ALSTON, C. L, BLAKELY, E. L, CRAIG, K, SMITH, C, EVANS, J, SELLER, A, CZERMIN, B, HANNA, M. G
• Format: Journal Article
• Language: English
• Published: Hagerstown, MD Lippincott Williams & Wilkins 07-06-2011
• Subjects: Adult; Age Factors; Biological and medical sciences; Cell Cycle Proteins - genetics; Clinical/Scientific Notes; Cohort Studies; DNA, Mitochondrial - genetics; Female; Gene Deletion; Genetic Predisposition to Disease - genetics; Humans; Male; Medical sciences; Mitochondrial Diseases - diagnosis; Mitochondrial Diseases - genetics; Mitochondrial Diseases - metabolism; Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis; Mutation - genetics; Neurology; Ophthalmoplegia, Chronic Progressive External - diagnosis; Ophthalmoplegia, Chronic Progressive External - genetics; Ophthalmoplegia, Chronic Progressive External - metabolism; Ribonucleotide Reductases - deficiency; Ribonucleotide Reductases - genetics; Deletion; Nervous system diseases; Mutation
• ISSN: 0028-3878; 1526-632X
• DOI: 10.1212/WNL.0b013e31821e558b