Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A

Human Genetics

Volumn 116, Issue 1-2, 2005, Pages 23-27

  Kijima, Kazuki ^a   Numakura, Chikahiko ^a   Izumino, Hiroko ^a   Umetsu, Kazuo ^a   Nezu, Atsuo ^b   Shiiki, Toshihide ^c   Ogawa, Masafumi ^d   Ishizaki, Yoshito ^e   Kitamura, Takeshi ^f   Shozawa, Yasunobu ^g   Hayasaka, Kiyoshi ^a  

^a YAMAGATA UNIVERSITY   (Japan)

^b YOKOHAMA CITY UNIVERSITY MEDICAL CENTER   (Japan)

^c Tokyo Children's Rehabilitation Hospital   (Japan)

^d NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^e FUKUOKA CHILDREN S HOSPITAL   (Japan)

^f Saiseikai Hiroshima Hospital   (Japan)

^g TEIKYO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GUANOSINE TRIPHOSPHATASE; HYBRID PROTEIN; MEMBRANE PROTEIN; MITOCHONDRIAL PROTEIN;

ARTICLE; CHROMOSOME 1P; CHROMOSOME MUTATION; CONTROLLED STUDY; DISEASE CLASSIFICATION; DNA FLANKING REGION; FEMALE; GENE LOCATION; GENE MUTATION; GENETIC LINKAGE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; JAPAN; MAJOR CLINICAL STUDY; MALE; MITOCHONDRION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PEDIGREE; PERIPHERAL NERVE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN TARGETING; REGULATORY MECHANISM;

ADULT; CHARCOT-MARIE-TOOTH DISEASE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GTP PHOSPHOHYDROLASES; HETEROZYGOTE; HUMANS; MALE; MEMBRANE PROTEINS; MITOCHONDRIA; MITOCHONDRIAL PROTEINS; MUTATION;

EID: 19944425973     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-004-1199-2     Document Type: Article

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