A Novel in-Frame 18-bp Microdeletion in MT-CYB Causes a Multisystem Disorder with Prominent Exercise Intolerance

Human Mutation

Volumn 35, Issue 8, 2014, Pages 954-958

  Carossa, Valeria ^a   Ghelli, Anna ^b   Tropeano, Concetta Valentina ^b   Valentino, Maria Lucia ^b,c   Iommarini, Luisa ^b   Maresca, Alessandra ^b,c   Caporali, Leonardo ^c   La Morgia, Chiara ^b,c   Liguori, Rocco ^b,c   Barboni, Piero ^d   Carbonelli, Michele ^d   Rizzo, Giovanni ^b,e   Tonon, Caterina ^e   Lodi, Raffaele ^e   Martinuzzi, Andrea ^f   De Nardo, Vera ^g   Rugolo, Michela ^b   Ferretti, Luca ^a   Gandini, Francesca ^a   Pala, Maria ^a   Achilli, Alessandro ^h   Olivieri, Anna ^a   Torroni, Antonio ^a,i   Carelli, Valerio ^b,c   more..

^a UNIVERSITY OF PAVIA   (Italy)

^b UNIVERSITY OF BOLOGNA   (Italy)

^c IRCCS ISTITUTO DELLE SCIENZE NEUROLOGICHE DI BOLOGNA   (Italy)

^d Studio Oculistico d'Azeglio   (Italy)

^e UNIVERSITY OF BOLOGNA   (Italy)

^f SCIENTIFIC INSTITUTE   (Italy)

^g UNIVERSITY OF PADOVA   (Italy)

^h UNIVERSITY OF PERUGIA   (Italy)

ⁱ C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

Author keywords

Cybrid; Exercise intolerance; MT CYB; MtDNA; Multi system mitochondrial disease

Indexed keywords

CYTOCHROME B; MITOCHONDRIAL DNA;

ADULT; CASE REPORT; CATARACT; DYSPHAGIA; FATIGUE; FEMALE; GENE DELETION; GENE EXPRESSION; GENETICS; HUMAN; MOLECULAR GENETICS; MUSCLE DISEASE; NUCLEOTIDE SEQUENCE; PATHOLOGY; PERCEPTION DEAFNESS; PIGMENT EPITHELIUM; TOOTH DISCOLORATION;

ADULT; BASE SEQUENCE; CATARACT; CYTOCHROMES B; DEGLUTITION DISORDERS; DNA, MITOCHONDRIAL; FATIGUE; FEMALE; GENE EXPRESSION; HEARING LOSS, SENSORINEURAL; HUMANS; MOLECULAR SEQUENCE DATA; MUSCULAR DISEASES; PIGMENT EPITHELIUM OF EYE; SEQUENCE DELETION; TOOTH DISCOLORATION;

EID: 84904408815     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22596     Document Type: Article

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