A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - The NARP syndrome

Gene

Volumn 515, Issue 2, 2013, Pages 372-375

  Duno, Morten ^a   Wibrand, Flemming ^a   Baggesen, Kirsten ^b   Rosenberg, Thomas ^a   Kjaer, Niels ^b   Frederiksen, Anja L ^b  

^a Rigshospitalet   (Denmark)

^b AALBORG UNIVERSITY HOSPITAL   (Denmark)

Author keywords

Ataxia; M.8989G>C; Mitochondria; NARP; Neuropathy; Retinitis pigmentosa

Indexed keywords

AMINO ACID; MITOCHONDRIAL DNA;

ADULT; ARTICLE; ATAXIA; BLURRED VISION; CASE REPORT; CEREBELLUM ATROPHY; DYSARTHRIA; GENETIC ASSOCIATION; HETEROPLASMY; HUMAN; MALE; MITOCHONDRION; NARP SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PIGMENT EPITHELIUM; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; VISUAL ACUITY;

BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIA, MUSCLE; MITOCHONDRIAL MYOPATHIES; MITOCHONDRIAL PROTON-TRANSLOCATING ATPASES; MUTATION, MISSENSE; RETINITIS PIGMENTOSA;

EID: 84872501092     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.12.066     Document Type: Article

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