3697G>A in MT-ND1 is a causative mutation in mitochondrial disease

Mitochondrion

Volumn 28, Issue , 2016, Pages 54-59

  Spangenberg, Lucía ^a   Graña, Martín ^a   Greif, Gonzalo ^a   Suarez Rivero, Juan M ^b,d   Krysztal, Karina ^c   Tapié, Alejandra ^e   Boidi, María ^e   Fraga, Valeria ^f   Lemes, Aída ^g   Gueçaimburú, Rosario ^e   Cerisola, Alfredo ^h   Sánchez Alcázar, José A ^b,d   Robello, Carlos ^a   Raggio, Victor ^e   Naya, Hugo ^a  

^a INSTITUT PASTEUR DE MONTEVIDEO   (Uruguay)

^b UNIVERSIDAD PABLO DE OLAVIDE   (Spain)

^c UNIVERSIDAD ORT URUGUAY   (Uruguay)

^d INSTITUTO DE SALUD CARLOS III   (Spain)

^e DEPARTAMENTO DE BIOQUÍMICA   (Uruguay)

^f Servicio Médico Integral   (Uruguay)

^g Hospital Italiano Montevideo   (Uruguay)

^h Centro de Rehabilitación Infantil Teletón   (Uruguay)

Author keywords

Clinical genomics; Heteroplasmy; Leigh disease; Mitochondrial disease; Next Generation Sequencing

Indexed keywords

ARGININE; CARBOXYLIC ACID; GUANINE; MITOCHONDRIAL COMPLEX IV; MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); ROTENONE; UBIDECARENONE; UNCLASSIFIED DRUG; MT-ND1 PROTEIN, HUMAN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE; UBIQUINONE;

ARTICLE; CASE REPORT; CEREBROSPINAL FLUID; CHILD; DISEASE ASSOCIATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA LIBRARY; ENERGY METABOLISM; EXTRAPYRAMIDAL SYNDROME; FEMALE; FIBROBLAST; GENE FREQUENCY; GENE MUTATION; GENE SEGREGATION; GENETIC CONSERVATION; HETEROPLASMY; HUMAN; HUMAN CELL; HUMAN TISSUE; INBORN ERROR OF METABOLISM; LEIGH DISEASE; MITOCHONDRIAL GENE; MT ND1 GENE; MUSCULAR DYSTROPHY; NEXT GENERATION SEQUENCING; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOPHYSIOLOGY; PHENOTYPE; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; SPECTROSCOPY; SYMPTOMATOLOGY; ANALOGS AND DERIVATIVES; CHEMISTRY; GENETICS; HIGH THROUGHPUT SEQUENCING; POINT MUTATION;

CHILD, PRESCHOOL; DNA, MITOCHONDRIAL; FEMALE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; LEIGH DISEASE; NADH DEHYDROGENASE; POINT MUTATION; UBIQUINONE;

EID: 84961999820     PISSN: 15677249     EISSN: 18728278     Source Type: Journal    
DOI: 10.1016/j.mito.2016.03.006     Document Type: Article

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