Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data

Clinical Genetics

Volumn 92, Issue 2, 2017, Pages 188-198

  Nambot, S ^a,b   Gavrilov, D ^c   Thevenon, J ^a,b,d   Bruel, A L ^b,d   Bainbridge, M ^e   Rio, M ^f   Goizet, C ^g   Rotig A ^f   Jaeken, J ^h   Niu, N ^e   Xia, F ^e   Vital, A ^g   Houcinat, N ^a   Mochel, F ⁱ   Kuentz, P ^b   Lehalle, D ^a   Duffourd, Y ^b,d   Riviere J B ^b,d   Thauvin Robinet, C ^a,b,d   Beaudet, A L ^e   Faivre, L ^a,b,d   more..

^a Medical University of Dijon   (France)

^b DIJON UNIVERSITY HOSPITAL   (France)

^c Mayo Clinic College of Medicine   (United States)

^d UNIVERSITÉ DE BOURGOGNE   (France)

^e BAYLOR COLLEGE OF MEDICINE   (United States)

^f HÔPITAL NECKER ENFANTS MALADES   (France)

^g BORDEAUX UNIVERSITY HOSPITAL   (France)

^h UNIVERSITY HOSPITALS LEUVEN   (Belgium)

ⁱ PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

data sharing; GFER; mitochondrial condition; whole exome sequencing

Indexed keywords

3 METHYGLUTARIC ACID; 3 METHYLGLUTACONIC ACID; ANTICONVULSIVE AGENT; ATM PROTEIN; CITRATE SYNTHASE; COMPLEMENTARY DNA; CYTOCHROME C OXIDASE; FERRITIN; GLUTARIC ACID DERIVATIVE; GROWTH FACTOR ERV1 LIKE PROTEIN; LACTIC ACID DERIVATIVE; PROTEIN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE; SUCCINATE DEHYDROGENASE; UBIDECARENONE; UNCLASSIFIED DRUG; CYTOCHROME REDUCTASE; GFER PROTEIN, HUMAN;

ADOLESCENT; ADULT; ANTICONVULSANT THERAPY; APNEA; ARTICLE; ATTENTION DEFICIT DISORDER; AUTISM; BLADDER DISEASE; CACHEXIA; CAMPTODACTYLY; CASE REPORT; CATARACT EXTRACTION; CEREBELLUM ATROPHY; CHOREA; CLINICAL FEATURE; CONGENITAL CATARACT; CONTRACTURE; DEVELOPMENTAL DELAY; DIARRHEA; DIETARY FIBER; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DRY SKIN; DYSTONIA; ELECTROENCEPHALOGRAPHY; ELECTROMYOGRAPHY; ELECTRON MICROSCOPY; ENCEPHALOMYOPATHY; ENZYME ACTIVITY; EPILEPTIC DISCHARGE; EPILEPTIC STATE; EXON; FACE DYSMORPHIA; FACE MUSCLE; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; HETEROZYGOSITY; HIP DYSPLASIA; HISTOCHEMISTRY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPERCAPNIA; HYPOGLYCEMIA; HYPOTROPHY; INTELLECTUAL IMPAIRMENT; KNEE DISEASE; LACRIMATION DISORDER; LACTIC ACIDEMIA; LENNOX GASTAUT SYNDROME; LIVER BIOPSY; LIVER FIBROSIS; LUNG INFECTION; MALE; MICROSCOPY; MILK; MOTOR DYSFUNCTION; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MYELINATED NERVE; MYOCLONUS; NERVE BIOPSY; NEUROIMAGING; NEXT GENERATION SEQUENCING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUTRITIONAL INTOLERANCE; PARALYSIS; PES EQUINUS; PHENOTYPE; PICA; PRIORITY JOURNAL; RECESSIVE INHERITANCE; RESPIRATORY DISTRESS; RESPIRATORY TRACT INTUBATION; SCLEROSIS; SCOLIOSIS; SENSORIMOTOR NEUROPATHY; SLEEP DISORDER; SOYBEAN; STOP CODON; TENDON REFLEX; THERMOREGULATION; TREMOR; VESICAL GLOBE; WHOLE EXOME SEQUENCING; WILD TYPE; YOUNG ADULT; CHILD; GENETIC PREDISPOSITION; GENETICS; HETEROZYGOTE; MITOCHONDRIAL ENCEPHALOMYOPATHY; MUTATION; PATHOPHYSIOLOGY; PEDIGREE;

ADOLESCENT; ADULT; CHILD; CYTOCHROME REDUCTASES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; MALE; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUTATION; PEDIGREE; WHOLE EXOME SEQUENCING; YOUNG ADULT;

EID: 85014118522     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12985     Document Type: Article

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