New perspective in diagnostics of mitochondrial disorders: Two years' experience with whole-exome sequencing at a national paediatric centre

Journal of Translational Medicine

Volumn 14, Issue 1, 2016, Pages

  Pronicka, Ewa ^a   Piekutowska Abramczuk, Dorota ^a   Ciara, Elzbieta ^a   Trubicka, Joanna ^a   Rokicki, Dariusz ^a   Karkucinska Wieckowska, Agnieszka ^a   Pajdowska, Magdalena ^a   Jurkiewicz, Elzbieta ^a   Halat, Paulina ^a   Kosinska, Joanna ^b   Pollak, Agnieszka ^c   Rydzanicz, Małgorzata ^b   Stawinski, Piotr ^c   Pronicki, Maciej ^a   Krajewska Walasek, Małgorzata ^a   Płoski, Rafał ^b  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^b MEDICAL UNIVERSITY OF WARSAW   (Poland)

^c Department of Pathology ^*  (Poland)

Author keywords

3 methylglutaconic aciduria; Basal ganglia involvement; Candidate gene; Leigh syndrome; Mitochondrial disease criteria scale; Mitochondrial disorders; Neonates; Novel mutation; Whole exome sequencing

Indexed keywords

MITOCHONDRIAL DNA;

ACAD9 GENE; AIFM1 GENE; ARTICLE; BASAL GANGLION; BRAIN REGION; CLINICAL ARTICLE; CLPB GENE; COX10 GENE; CPS1 GENE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EARS GENE; EXOME; FBXL4 GENE; FEMALE; GENE; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENE STRUCTURE; GENETIC VARIABILITY; HEARING IMPAIRMENT; HETEROPLASMY; HOMOZYGOTE; HSD17B4 GENE; HUMAN; MALE; MECP2 GENE; MITOCHONDRIAL GENOME; MTND1 GENE; MTND5 GENE; MUSCLE BIOPSY; NONHUMAN; PC GENE; PDHA1 GENE; PGAP2 GENE; PHENOTYPE; PRF1 GENE; RRM2B GENE; SBDS GENE; SERAC1 GENE; SLC19A3 GENE; BIOPSY; CHILD; DNA SEQUENCE; GENETICS; INBORN ERROR OF METABOLISM; INFANT; MITOCHONDRIAL DISEASES; MUSCLE; MUTATION; NEWBORN; PATHOLOGY; PEDIATRICS; PEDIGREE; PRESCHOOL CHILD; PROCEDURES;

BIOPSY; CHILD; CHILD, PRESCHOOL; DNA, MITOCHONDRIAL; EXOME; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; METABOLISM, INBORN ERRORS; MITOCHONDRIAL DISEASES; MUSCLES; MUTATION; PEDIATRICS; PEDIGREE; SEQUENCE ANALYSIS, DNA;

EID: 84973572927     PISSN: None     EISSN: 14795876     Source Type: Journal    
DOI: 10.1186/s12967-016-0930-9     Document Type: Article

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