Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie-tooth neuropathy type 1: Identification of five new mutations

Human Mutation

Volumn 9, Issue 1, 1997, Pages 47-52

  Nelis, Eva ^a   Simokovic, Sandra ^a   Timmerman, Vincent ^a   Löfgren, Ann ^a   Backhovens, Hubert ^a   De Jonghe, Peter ^a   Martin, Jean Jacques ^a   Van Broeckhoven, Christine ^a  

^a UNIVERSITY OF ANTWERP   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GAP JUNCTION PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; GENE MUTATION; GENETIC LINKAGE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN CELL; PERIPHERAL NEUROPATHY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; X CHROMOSOME DOMINANT DISORDER;

CHARCOT-MARIE-TOOTH DISEASE; CONNEXINS; FEMALE; HUMANS; MALE; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0031021107     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)9:1<47::AID-HUMU8>3.0.CO;2-M     Document Type: Article

References (8)

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. Cochrane S, Bergoffen J, Fairweather ND, Müller E, Mostacciuolo ML, Monaco AP, Fishbeck KH, Haites NE (1994) X linked Charcot-Marie-Tooth disease (CMTX1): A study of 15 families with 12 highly informative polymorphisms. J Med Genet 31: 193-196.
3. Corcos IA, Lafrenière RG, Begy CR, Loch-Caruso R, Willard HF, Glover TW (1992) Refined localization of human connexin32 gene locus, GJB1, to Xq13.1. Genomics 13:479-480.
4. Don RH, Cox PT, Wamwright BJ, Baker K, Mattick JS (1991) "Touchdown" PCR to circumvent spurious priming during gene amplification. Nucleic Acids Res 19:4008.
5. Dyck PJ, Chance P, Lebo R, et al. (1993) Hereditary motor and sensory neuropathies. In Dyck PJ, Thomas PK, Griffin JW, et al. (eds): Peripheral Neuropathy. Philadelphia: WB Saunders, pp 1094-1136.
6. Fairweather N, Bell C, Cochrane S, Chelly L, Wang S, Mostacciuolo ML, Monaco MP, Haites NE (1994) Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1). Hum Mol Genet 3:29-31.
7. Gal A, Mücke J, Theile H, Wieacker PF, Ropers HH, Wienker TF (1985) X-linked dominant Charcot-Marie-Tooth disease: Suggestion of linkage with a cloned DNA sequence from the proximal Xq. Hum Genet 70:38-42.
8. Hayashi K (1991) PCR-SSCP: A simple and sensitive method for detection of mutations in the genomic DNA. PCR Methods Appl 1:34-38.