Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70

Molecular Genetics and Metabolism

Volumn 101, Issue 2-3, 2010, Pages 282-285

  Shchelochkov, Oleg A ^a   Li, Fang Yuan ^a   Wang, Jing ^a   Zhan, Hongli ^a   Towbin, Jeffrey A ^b   Jefferies, John Lynn ^a   Wong, Lee Jun ^a   Scaglia, Fernando ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

ATP synthase; ATP5J; Case report; Hyperammonemia; Hypertrophic cardiomyopathy; Mitochondrial disorders; Respiratory complex V; Reye like syndrome; TMEM70; Type IV 3 methylglutaconic aciduria

Indexed keywords

3 METHYLGLUTACONIC ACID; 3 METHYLGLUTARIC ACID; MITOCHONDRIAL DNA; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE;

3 METHYLGLUTACONIC ACIDURIA; ACIDURIA; ARTICLE; CASE REPORT; COGNITION; DISEASE COURSE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FEMALE; GENE; GENE MUTATION; GROWTH; HEART VENTRICLE ARRHYTHMIA; HUMAN; HYPERAMMONEMIA; HYPERTROPHIC CARDIOMYOPATHY; LACTIC ACIDOSIS; MUSCLE BIOPSY; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REYE SYNDROME; SEQUENCE ANALYSIS; TMEM70 GENE; WESTERN BLOTTING;

ACIDOSIS, LACTIC; ADOLESCENT; CARDIOMYOPATHY, HYPERTROPHIC; CHILD; ELECTRON TRANSPORT; FEMALE; GLUTARATES; HUMANS; HYPERAMMONEMIA; INFANT, NEWBORN; MEMBRANE PROTEINS; MITOCHONDRIAL DISEASES; MITOCHONDRIAL PROTEINS; MITOCHONDRIAL PROTON-TRANSLOCATING ATPASES; REYE SYNDROME; SYNDROME;

EID: 77957219798     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.07.012     Document Type: Article

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