A study of familial MELAS: Evaluation of A3243G mutation, clinical phenotype, and magnetic resonance spectroscopy-monitored progression

Neurology India

Volumn 60, Issue 1, 2012, Pages 86-89

  Wang, Tao ^a,b   Chen, Chunnuan ^a   Xiong, Nian ^a   Wang, Yuhui ^b   Xiong, Jing ^a   Huang, Jinsha ^a   Zhang, Zhentao ^c  

^a MCLEAN HOSPITAL   (United States)

^b HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

^c RENMIN HOSPITAL OF WUHAN UNIVERSITY   (China)

Author keywords

and stroke like episodes syndrome; encephalopathy; lactic acidosis; Magnetic resonance imaging; magnetic resonance spectroscopy; mitochondrial disease; mitochondrial myopathy; mutation

Indexed keywords

ADENOSINE TRIPHOSPHATE; AGAROSE; CHOLINE; CREATINE; DNA FRAGMENT; LACTIC ACID; MITOCHONDRIAL DNA; N ACETYLASPARTIC ACID; UBIDECARENONE; VITAMIN;

ARTICLE; ATAXIA; BLOOD; BRAIN ATROPHY; CASE REPORT; CEREBELLUM ATROPHY; CHINA; COMPUTER ASSISTED TOMOGRAPHY; DIABETES MELLITUS; DISEASE CARRIER; DISEASE COURSE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA SEQUENCE; ELECTROCARDIOGRAM; ELECTROENCEPHALOGRAM; EXTRACHROMOSOMAL INHERITANCE; FAHR DISEASE; FAMILIAL DISEASE; FEMALE; FEVER; GENE AMPLIFICATION; GENE EXPRESSION; GENETIC TRAIT; HEADACHE; HEARING IMPAIRMENT; HUMAN; INFORMED CONSENT; LACTIC ACIDOSIS; MALE; MELAS SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PROGENY; PROTON NUCLEAR MAGNETIC RESONANCE; PSYCHOMOTOR RETARDATION; QUALITY OF LIFE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEIZURE; SEQUENCE ANALYSIS; SHORT STATURE; STROKE; VISUAL IMPAIRMENT; VOMITING;

ASPARTIC ACID; BRAIN; CREATINE; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FAMILY HEALTH; FEMALE; HUMANS; LACTIC ACID; MAGNETIC RESONANCE IMAGING; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MELAS SYNDROME; MUTATION; TOMOGRAPHY, X-RAY COMPUTED;

EID: 84859173874     PISSN: 00283886     EISSN: 19984022     Source Type: Journal    
DOI: 10.4103/0028-3886.93609     Document Type: Article

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