Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

Journal of Medical Genetics

Volumn 50, Issue 10, 2013, Pages 704-714

  Bannwarth, Sylvie ^a,b   Procaccio, Vincent ^c   Lebre, Anne Sophie ^d   Jarde, Claude ^e   Chaussenot, Annabelle ^a,b   Hoarau, Claire ^a,b   Maoulida, Hassani ^f   Charrier, Nathanaël ^f   Gai, Xiaowu ^g   Xie, Hongbo M ^h   Ferre, Marc ^c   Fragaki, Konstantina ^a,b   Hardy, Gaëlle ⁱ   de Camaret, Bénédicte Mousson ^j   Marlin, Sandrine ^k   Dhaenens, Claire Marie ^l   Slama, Abdelhamid ^m   Rocher, Christophe ^d   Bonnefont, Jean Paul ^d   Rötig, Agnès ^d   Aoutil, Nadia ^e   Gilleron, Mylène ^e   Desquiret Dumas, Valérie ^c   Reynier, Pascal ^c   Ceresuela, Jennifer ^j   Jonard, Laurence ^k   Devos, Aurore ^l   Espil Taris, Caroline ^d   Martinez, Delphine ⁱ   Gaignard, Pauline ^m   Sang, Kim Hanh Le Quan ^d   Amati Bonneau, Patrizia ^c   Falk, Marni J ^h   Florentz, Catherine ⁿ   Chabrol, Brigitte ^o   Durand Zaleski, Isabelle ^f   Paquis Flucklinger, Véronique ^a,b   more..

^a UNIVERSITY OF NICE SOPHIA ANTIPOLIS   (France)

^b CENTRE HOSPITALIER UNIVERSITAIRE DE NICE   (France)

^c ANGERS UNIVERSITY HOSPITAL   (France)

^d INSERM   (France)

^e PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^f HÔTEL DIEU   (France)

^g Loyola University Health Sciences Division   (United States)

^h CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

ⁱ GRENOBLE UNIVERSITY HOSPITAL   (France)

^j HOSPICES CIVILS DE LYON   (France)

^k ARMAND TROUSSEAU HOSPITAL   (France)

^l UNIV LILLE   (France)

^m BICÊTRE HOSPITAL   (France)

ⁿ INST DE BIOL MOLEC ET CELLULAIRE   (France)

^o TIMONE HOSPITAL   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); TRANSFER RNA;

ADOLESCENT; ADULT; ADULTHOOD; ARTICLE; BRAIN ATROPHY; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CHEMICAL ANALYSIS; CHILD; CHILDHOOD; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; COMPLEX I DEFICIENCY; DIABETES MELLITUS; DNA POLYMORPHISM; EPILEPSY; FANCONI RENOTUBULAR SYNDROME; FEMALE; GENE DELETION; GENETIC SCREENING; GROWTH RETARDATION; HEARING IMPAIRMENT; HETEROPLASMY; HUMAN; HUMAN TISSUE; HYPERLACTATEMIA; HYPERTROPHIC CARDIOMYOPATHY; INFANT; KIDNEY DISEASE; LEIGH DISEASE; LEUKODYSTROPHY; LIVER FAILURE; MAJOR CLINICAL STUDY; MALE; MELAS SYNDROME; MITOCHONDRIAL DNA DISORDER; MITOCHONDRIAL GENOME; MITOCHONDRIAL MYOPATHY; MOTOR DYSFUNCTION; MUSCLE BIOPSY; MYOCLONUS; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; OPTIC NERVE ATROPHY; PERIPHERAL NEUROPATHY; PHENOTYPE; POINT MUTATION; POSTERIOR FOSSA; POSTNATAL GROWTH; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; PTOSIS; RESPIRATORY CHAIN; SCHOOL CHILD; WHITE MATTER LESION;

MITOCHONDRIAL DISEASE; MITOCHONDRIAL DNA; PATIENT COHORT; RARE MUTATIONS;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; CHILD; CHILD, PRESCHOOL; DNA, MITOCHONDRIAL; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; MITOCHONDRIAL DISEASES; MUTATION; PHENOTYPE; PREVALENCE; YOUNG ADULT;

EID: 84890230476     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2013-101604     Document Type: Article

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