Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2

Annals of Neurology

Volumn 59, Issue 2, 2006, Pages 276-281

  Züchner, Stephan ^a   De Jonghe, Peter ^b,c   Jordanova, Albena ^b,d   Claeys, Kristl G ^b,c   Guergueltcheva, Velina ^d   Cherninkova, Sylvia ^d   Hamilton, Steven R ^e   Van Stavern, Greg ^f   Krajewski, Karen M ^g   Stajich, Jeffery ^a   Tournev, Ivajlo ^d   Verhoeven, Kristien ^b   Langerhorst, Christine T ^h   De Visser, Marianne ^h   Baas, Frank ^h   Bird, Thomas ⁱ   Timmerman, Vincent ^b   Shy, Michael ^g   Vance, Jeffery M ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^c ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^d MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^e SWEDISH MEDICAL CENTER   (United States)

^f WAYNE STATE UNIVERSITY   (United States)

^g WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h ACADEMIC MEDICAL CENTER   (Netherlands)

ⁱ UNIVERSITY OF WASHINGTON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN; MITOFUSIN 2; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AXONAL INJURY; CHILD; CLINICAL ARTICLE; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC DISORDER; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; LEBER HEREDITARY OPTIC NEUROPATHY; MALE; MFN2 GENE; MULTIGENE FAMILY; NEUROPATHY; OPTIC NERVE ATROPHY; OXIDATIVE PHOSPHORYLATION; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; SENSORY NEUROPATHY; VISUAL ACUITY; VISUAL IMPAIRMENT;

ADOLESCENT; ADULT; AGE OF ONSET; CHARCOT-MARIE-TOOTH DISEASE; CHILD; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MEMBRANE PROTEINS; MIDDLE AGED; MITOCHONDRIAL PROTEINS; MODELS, BIOLOGICAL; MUTATION; NEURAL CONDUCTION; OPTIC ATROPHY; PEDIGREE; VISUAL ACUITY;

EID: 32044474896     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.20797     Document Type: Article

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