A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16

Human Molecular Genetics

Volumn 20, Issue 10, 2011, Pages 1893-1905

  Carelli, Valerio ^a   Schimpf, Simone ^b   Fuhrmann, Nico ^b   Valentino, Maria Lucia ^a   Zanna, Claudia ^a   Iommarini, Luisa ^a   Papke, Monika ^b   Schaich, Simone ^b   Tippmann, Sabine ^b   Baumann, Britta ^b   Barboni, Piero ^a   Longanesi, Lora ^c   Rugolo, Michela ^a   Ghelli, Anna ^a   Alavi, Marcel V ^b   Youle, Richard J ^d   Bucchi, Laura ^a   Carroccia, Rosanna ^a   Giannoccaro, Maria Pia ^a   Tonon, Caterina ^e   Lodi, Raffaele ^e   Cenacchi, Giovanna ^f   Montagna, Pasquale ^a   Liguori, Rocco ^a   Wissinger, Bernd ^b   more..

^a UNIVERSITY OF BOLOGNA   (Italy)

^b UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^c Municipal Hospital of Lugo   (Italy)

^d NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^e MR Spectroscopy Unit   (Italy)

^f UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE; LACTIC ACID; MITOCHONDRIAL DNA;

ADULT; ARTICLE; AUDIOMETRY; AUTOSOMAL DOMINANT OPTIC ATROPHY; BEST CORRECTED VISUAL ACUITY; BIOGENESIS; BLOOD LEVEL; CHROMOSOME 16; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ELECTROCARDIOGRAM; ELECTROMYOGRAM; ELECTRONEUROGRAPHY; EVOKED BRAIN STEM AUDITORY RESPONSE; EVOKED MUSCLE RESPONSE; EVOKED SOMATOSENSORY RESPONSE; EXERCISE; FIBROBLAST; GENE; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC SCREENING; HEART DISEASE; HUMAN; LINKAGE ANALYSIS; MALE; MARKER GENE; MUSCLE BIOPSY; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; ONSET AGE; OPA8 GENE; OPTIC NERVE DISEASE; OPTICAL COHERENCE TOMOGRAPHY; OXIDATIVE PHOSPHORYLATION; PERCEPTION DEAFNESS; PRIORITY JOURNAL; RETINA NERVE CELL; RETINAL NERVE FIBER LAYER; SENSORY NERVE CONDUCTION; THROMBOCYTE; VISUAL ACUITY; VISUAL IMPAIRMENT;

ADOLESCENT; ADULT; CHILD; CHROMOSOMES, HUMAN, PAIR 16; COMPARATIVE GENOMIC HYBRIDIZATION; DNA COPY NUMBER VARIATIONS; DNA, MITOCHONDRIAL; FEMALE; GENOME-WIDE ASSOCIATION STUDY; HAPLOTYPES; HUMANS; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; MITOCHONDRIA; MUSCLE, SKELETAL; OPTIC ATROPHY, AUTOSOMAL DOMINANT; PEDIGREE; POLYMORPHISM, GENETIC; RETINAL VESSELS; YOUNG ADULT;

EID: 79955368211     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr071     Document Type: Article

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