Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings

American Journal of Medical Genetics, Part A

Volumn 167, Issue 5, 2015, Pages 1147-1151

  Vernon, Hilary J ^a,b,d   Mcclellan, Rebecca ^a   Batista, Denise As ^c   Naidu, Sakkubai ^a,c,d  

^a KENNEDY KRIEGER INSTITUTE   (United States)

^b JOHNS HOPKINS UNIVERSITY   (United States)

^c Department of Pathology ^*  (United States)

^d JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Exome sequencing; FARS2; Mitochondrial tRNA synthetase

Indexed keywords

2 OXOGLUTARIC ACID; 3 HYDROXYISOVALERIC ACID; 3 METHYLCROTONYLGLYCINE; 3 METHYLGLUTACONIC ACID; AMINO ACID; UNCLASSIFIED DRUG; PHENYLALANINE TRANSFER RNA LIGASE;

ADOLESCENT; AMINO ACID BLOOD LEVEL; ARTICLE; CASE REPORT; CEREBRAL PALSY; CHILD; DEVELOPMENTAL DISORDER; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DYSARTHRIA; EXOME; EXON; FACE DYSMORPHIA; FARS2 GENE; FEMALE; GASTROESOPHAGEAL REFLUX; GENE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HUMAN; IL1RAPL1 GENE; INFANTILE HYPOTONIA; INTELLECTUAL IMPAIRMENT; INTERSTITIAL CHROMOSOME DELETION; INTERSTITIAL CHROMOSOME DELETION 6P25.1; INTRON; IRRITABILITY; LACTIC ACIDOSIS; MALE; METABOLIC ACIDOSIS; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PES EQUINOVARUS; PRESCHOOL CHILD; PRIORITY JOURNAL; SEIZURE; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; TREMOR; ENZYMOLOGY; FRONTAL LOBE; GENETICS; MITOCHONDRION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; RADIOGRAPHY; WHITE MATTER;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; EXOME; EXONS; FEMALE; FRONTAL LOBE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MUTATION, MISSENSE; PEDIGREE; PHENYLALANINE-TRNA LIGASE; SIBLINGS; WHITE MATTER;

EID: 84927910008     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36993     Document Type: Article

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