Exome sequencing identifies a CHKB mutation in Spanish patient with Megaconial Congenital Muscular Dystrophy and mtDNA depletion

European Journal of Paediatric Neurology

Volumn 18, Issue 6, 2014, Pages 796-800

  Castro Gago, Manuel ^a   Dacruz Alvarez, David ^a   Pintos Martínez, Elena ^b   Beiras Iglesias, Andrés ^b   Delmiro, Aitor ^c,d   Arenas, Joaquín ^c,d   Martín, Miguel Ángel ^c,d   Martínez Azorín, Francisco ^c,d  

^a Facultad de Medicina   (Spain)

^b University Hospital of Santiago de Compostela   (Spain)

^c Universidad Complutense   (Spain)

^d CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

Author keywords

CHKB; Dystrophy; Megaconial Congenital Muscular; Mitochondria; mtDNA depletion; Whole exome sequencing

Indexed keywords

AMINOTRANSFERASE; CREATINE KINASE; CYTOCHROME C OXIDASE; METHYLPHENIDATE; MITOCHONDRIAL DNA; NICOTINAMIDE ADENINE DINUCLEOTIDE (PHOSPHATE) TRANSHYDROGENASE; RISPERIDONE; SUCCINATE DEHYDROGENASE; CHKB PROTEIN, HUMAN; CHOLINE KINASE;

AMINOTRANSFERASE BLOOD LEVEL; ANTIBODY LABELING; ARTICLE; ATTENTION DEFICIT DISORDER; CASE REPORT; CHILD; CHKB GENE; COMPLEX I DEFICIENCY; COMPLEX III DEFICIENCY; CONTROLLED STUDY; CREATINE KINASE BLOOD LEVEL; CYTOCHROME C OXIDASE DEFICIENCY; DRUG WITHDRAWAL; ELECTROMYOGRAPHY; ELECTRON MICROSCOPY; ENZYME ANALYSIS; ENZYME MECHANISM; EXOME; GENE; GENE MUTATION; GENE SEQUENCE; HUMAN; INTELLIGENCE QUOTIENT; MALE; MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY; MENTAL DEFICIENCY; MITOCHONDRIAL DNA DEPLETION; MUSCLE BIOPSY; MUSCLE FIBRIL; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; NUCLEOTIDE SEQUENCE; QT PROLONGATION; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; SCHOOL CHILD; TENDON REFLEX; WHOLE EXOME SEQUENCING; COMPLICATION; GENETICS; INBORN ERROR OF METABOLISM; MITOCHONDRIAL MYOPATHY; MUTATION; PRESCHOOL CHILD; SPAIN;

CHILD, PRESCHOOL; CHOLINE KINASE; DNA, MITOCHONDRIAL; EXOME; HUMANS; MALE; METABOLISM, INBORN ERRORS; MITOCHONDRIAL MYOPATHIES; MUTATION; SPAIN;

EID: 84908326674     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2014.06.005     Document Type: Article

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