Two novel mutations (C53S, S26L) in the connexin32 of Charcot-Marie- Tooth disease type X families

Human Mutation

Volumn 8, Issue 3, 1996, Pages 270-272

  Yoshimura, Takeo ^a   Ohnishi, Akio ^b   Yamamoto, Tatsunori ^b   Fukushima, Yoshimitsu ^c   Kitani, Mitsuhiro ^d   Kobayashi, Takuro ^a  

^a KYUSHU UNIVERSITY   (Japan)

^b UNIVERSITY OF OCCUPATIONAL AND ENVIRONMENTAL HEALTH   (Japan)

^c SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

^d Masuda Red Cross General Hospital   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CELL DNA; CONNEXIN 32;

ARTICLE; CELL ADHESION; CONTROLLED STUDY; DNA DETERMINATION; FAMILIAL DISEASE; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC SCREENING; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; PRIORITY JOURNAL;

EID: 0029820690     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1098-1004(1996)8:3<270::aid-humu12>3.3.co;2-g     Document Type: Article

References (6)

1. Bergoffen J, Scherer SS, Wang S, Oronzi Scott M, Bone LJ, Paul DL, Chen K, Lensch MW, Chance PF, Fischbeck KH (1993) Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science 262: 2039-2042.
2. Fairweather N, Bell C, Cochrane S, Chelly J, Wang S, Mostacciuolo M, Monaco AP, Haites NE (1994) Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1). Hum Mol Genet 3: 29-34.
3. Raeymaekers P, Timmerman V, Nelis E, De Jonghe P, Hoogendijk JE, Baas F, Barker DF, Martin JJ, De Visser M, Bolhuis PA, Van Broeckhoven C (1991) Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). Neuromusc Disord 1: 93-97.
4. Rahman S, Evans WH (1991) Topology of connexin 32 in rat liver gap junctions: Evidence for an intramolecular disulphide connecting the two extracellular peptide loops. J Cell Sci 100: 567-578.
5. Timmerman V, Neils E, Van Hul W, Nieuwenhuijsen BW, Chen KL, Wang S, Ben Othman K, Cullen B, Leach RJ, Hanemann CO, DeJonghe P, Raeymaekers P, van Ommen G-JB, Martin J-J, Muller HW, Vance JM, Fischbeck KH, Broeckhoven C (1992) The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nature Genet 1: 171-175.
6. Valentijn LJ, Bolhuis PA, Zorn I, Hoogendijk JE., van der Bosch N, Hensels GW, Stanton Jr VP, Housman DE, Fischbeck KH, Ross DA, Nicholson GA, Meershoek KH, Dauwerse HG, van Ommen G-JB, Baas F (1992) The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A. Nature Genet 1: 166-170.