Mitochondrial respiratory chain disorders in the Old Order Amish population

Molecular Genetics and Metabolism

Volumn 118, Issue 4, 2016, Pages 296-303

  Ghaloul Gonzalez, Lina ^a   Goldstein, Amy ^a   Walsh Vockley, Catherine ^a   Dobrowolski, Steven F ^b   Biery, Amy ^c   Irani, Afifa ^c   Ibarra, Jordan ^b   Morton, D Holmes ^d   Mohsen, Al Walid ^a   Vockley, Jerry ^a,c  

^a CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

^b UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

^d Central Pennsylvania Clinic   (United States)

Author keywords

Amish; MELAS; Mitochondrial disease; ND5 gene; NDUFAF2 gene; POLG gene

Indexed keywords

ACICLOVIR; ARGININE; CARNITINE; FOSPHENYTOIN SODIUM; LACTIC ACID; LEVETIRACETAM; MIDAZOLAM; MITOCHONDRIAL DNA; PHENOBARBITAL; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE; UBIDECARENONE; CHAPERONE; DNA DIRECTED DNA POLYMERASE GAMMA; MITOCHONDRIAL PROTEIN; ND5 PROTEIN, HUMAN; NDUFAF2 PROTEIN, HUMAN; POLG PROTEIN, HUMAN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

ADOLESCENT; AMISH; ARTICLE; BRAIN INFARCTION; CASE REPORT; CHILD; EXTENDED FAMILY; FEMALE; GENE; GENETIC COUNSELING; HETEROPLASMY; HIGH RESOLUTION MELTING ANALYSIS; HOMOZYGOSITY; HUMAN; LACTATE BLOOD LEVEL; LEIGH DISEASE; LOW DRUG DOSE; MALE; MELAS SYNDROME; MENINGOENCEPHALITIS; ND5 GENE; NUCLEAR MAGNETIC RESONANCE IMAGING; OCCLUSIVE CEREBROVASCULAR DISEASE; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY CHAIN; VISUAL ACUITY; WHITE MATTER; DIAGNOSTIC IMAGING; DISORDERS OF MITOCHONDRIAL FUNCTIONS; GENETICS; INFANT; MITOCHONDRION; MUTATION; NORTH AMERICA; PATHOPHYSIOLOGY; PEDIGREE; PHENOTYPE;

ADOLESCENT; AMISH; CHILD; CHILD, PRESCHOOL; DNA POLYMERASE GAMMA; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX I; FEMALE; HUMANS; INFANT; LEIGH DISEASE; MAGNETIC RESONANCE IMAGING; MELAS SYNDROME; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MITOCHONDRIAL PROTEINS; MOLECULAR CHAPERONES; MUTATION; NORTH AMERICA; PEDIGREE; PHENOTYPE;

EID: 84991218694     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2016.06.005     Document Type: Article

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