Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier

Brain

Volumn 137, Issue 8, 2014, Pages 2164-2177

  Bonifert, Tobias ^a,b   Karle, Kathrin N ^c,d   Tonagel, Felix ^a   Batra, Marion ^b   Wilhelm, Christian ^e   Theurer, Yvonne ^c,d   Schoenfeld, Caroline ^c,d   Kluba, Torsten ^a   Kamenisch, York ^a   Carelli, Valerio ^f,g   Wolf, Julia ^c,d   Gonzalez, Michael A ^h   Speziani, Fiorella ^h   Schüle, Rebecca ^c,d,h   Züchner, Stephan ^h   Schöls, Ludger ^c,d   Wissinger, Bernd ^a   Synofzik, Matthis ^c,d  

^a UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^b UNIVERSITY OF TÜBINGEN   (Germany)

^c UNIVERSITY OF TÜBINGEN   (Germany)

^d GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

^e CEGAT GMBH   (Germany)

^f BELLARIA HOSPITAL   (Italy)

^g UNIVERSITY OF BOLOGNA   (Italy)

^h UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

ataxia; cryptic exon; deep intronic mutation; genetic modifier; mitochondrial network

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA; MESSENGER RNA; OPA1 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ADULT; ALLELIC IMBALANCE; ARTICLE; ATAXIA; BINDING SITE; CELL STRUCTURE; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CLINICAL EXAMINATION; CONTROLLED STUDY; DISEASE SEVERITY; DNA DETERMINATION; EXOME; EXON; EXTERNAL OPHTHALMOPLEGIA; FEMALE; FIBROBLAST; GEL ELECTROPHORESIS; GENE DOSAGE; GENE MUTATION; GENETIC SCREENING; HEARING IMPAIRMENT; HETEROZYGOSITY; HUMAN; IMMUNOBLOTTING; MAJOR CLINICAL STUDY; MALE; MITOCHONDRIAL DYNAMICS; MODIFIER GENE; MUSCLE ATROPHY; OPEN READING FRAME; OPHTHALMOSCOPY; OPTIC NERVE ATROPHY; OPTIC NERVE DISEASE; OPTICAL COHERENCE TOMOGRAPHY; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; PTOSIS; PYROSEQUENCING; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ISOLATION; SENSORIMOTOR NEUROPATHY; SPASTIC PARAPLEGIA; STOP CODON; WESTERN BLOTTING;

ATAXIA; CRYPTIC EXON; DEEP INTRONIC MUTATION; GENETIC MODIFIER; MITOCHONDRIAL NETWORK;

ADOLESCENT; ADULT; AGED; EXONS; FEMALE; GENE DOSAGE; GENETIC LOCI; GENETIC VARIATION; GENOME, HUMAN; GTP PHOSPHOHYDROLASES; HUMANS; MALE; MIDDLE AGED; MUTATION; OPTIC ATROPHY, AUTOSOMAL DOMINANT; PEDIGREE; PHENOTYPE; SYNDROME;

EID: 84905053922     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awu165     Document Type: Article

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