The Mitochondrial Disulfide Relay System Protein GFER Is Mutated in Autosomal-Recessive Myopathy with Cataract and Combined Respiratory-Chain Deficiency

American Journal of Human Genetics

Volumn 84, Issue 5, 2009, Pages 594-604

  Di Fonzo, Alessio ^a,b   Ronchi, Dario ^a,b   Lodi, Tiziana ^c   Fassone, Elisa ^a,b   Tigano, Marco ^c   Lamperti, Costanza ^a,b   Corti, Stefania ^a,b   Bordoni, Andreina ^a,b   Fortunato, Francesco ^a,b   Nizzardo, Monica ^a,b   Napoli, Laura ^a,b   Donadoni, Chiara ^a,b   Salani, Sabrina ^a,b   Saladino, Francesca ^a,b   Moggio, Maurizio ^a,b   Bresolin, Nereo ^a,b,d   Ferrero, Iliana ^c   Comi, Giacomo P ^a,b  

^a UNIVERSITY OF MILAN   (Italy)

^b FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^c UNIVERSITY OF PARMA   (Italy)

^d SCIENTIFIC INSTITUTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; CYTOCHROME C; CYTOCHROME C OXIDASE; GROWTH FACTOR ERV1 PROTEIN; MITOCHONDRIAL DNA; MITOCHONDRIAL PROTEIN; OXYGEN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); SUCCINATE DEHYDROGENASE (UBIQUINONE); THIOL OXIDASE; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIOGENESIS; CASE REPORT; CHILD; CONGENITAL CATARACT; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FIBROBLAST; GENE; GENE DELETION; GENE MAPPING; GENE MUTATION; GROWTH FACTOR ERV1 PROTEIN GENE; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; INFANT DISEASE; MITOCHONDRIAL MEMBRANE; MITOCHONDRIAL MYOPATHY; MUSCLE TISSUE; NONHUMAN; PARENT; PATHOGENESIS; PERCEPTION DEAFNESS; PRIORITY JOURNAL; RESPIRATORY CHAIN; RESPIRATORY FAILURE; SACCHAROMYCES CEREVISIAE; YEAST;

ADOLESCENT; CATARACT; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; CYTOCHROME REDUCTASES; DNA, MITOCHONDRIAL; HEARING LOSS; HUMANS; INTRACELLULAR MEMBRANES; LINKAGE (GENETICS); MALE; MITOCHONDRIAL DISEASES; MITOCHONDRIAL MYOPATHIES; MITOCHONDRIAL PROTEINS; MUTATION;

SACCHAROMYCES CEREVISIAE;

EID: 65149105599     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2009.04.004     Document Type: Article

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