Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: Characterization of 14 Cx32 mutations in 35 families

Human Mutation

Volumn 10, Issue 6, 1997, Pages 443-450

  Rouget, H ^a   LeGuern, E ^a,b,d   Birouk, N ^c   Gouider, R ^a,c   Tardieu, S ^a   Plassart, E ^d   Gugenheim, M ^c   Vallat, J M ^e   Louboutin, J P ^f   Bouche, P ^c   Agid, Y ^a,b   Brice, A ^a,b  

^a INSERM   (France)

^b Fed de Neurologie   (France)

^c Serv d'Explorations F   (France)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^e DUPUYTREN UNIVERSITY HOSPITAL   (France)

^f NANTES UNIVERSITY HOSPITAL   (France)

Author keywords

Charcot Marie Tooth; CMTX; Connexin 32; Mutation; Nonisotopic SSCP

Indexed keywords

DNA; GAP JUNCTION PROTEIN;

ARTICLE; CHROMOSOME 17P; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; FAMILY STUDY; FEMALE; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MOTOR NERVE CONDUCTION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 16944366517     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)10:6<443::AID-HUMU5>3.0.CO;2-E     Document Type: Article

References (9)

1. Barrio LC, Suchyna T, Bargiello T, Xu LX, Roginski RS, Bennett MVL, Nicholson BJ (1991) Gap junctions formed by connexins 26 and 32 alone and in combination are differently affected by applied voltage. Proc Natl Acad Sci USA 88:8410-8414.
2. Bergoffen J, Scherer SS, Wang S, Oronzi Scott M, Bone LJ, Paul DL, Chen K, Lensch MW, Chance PF, Fischbeck KH (1993a) Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science 262:2039-2042.
3. Bergoffen J, Trofatter J, Perivak-Vance MA, Haines JL, Chance PF, Fischbeck KH (1993b) Linkage localization of X-linked Charcot-Marie-Tooth disease. Am J Hum Genet 52:312-318.
4. Bone LJ, Dahl N, Lensch MW, Chance PF, Kelly T, LeGuern E, Magi S, Parry G, Shapiro H, Wang S, Fischbeck KH (1995) New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease. Neurology 45:1863-1866.
5. Cherryson AK, Yeung L, Kennerson ML, Nicholson GA (1994) Mutational studies in X-linked Charcot-Marie-Tooth disease. Am J Hum Genet 55:1261, A216.
6. Dyck PJ, Chance PF, Lebo RV, Carney JA (1993) Hereditary motor and sensory neuropathies. In Dyck PJ, Thomas PK, Griffin JW, Low PA, Podsulo JF (eds): Peripheral Neuropathy, 3rd Ed. Philadelphia: WB Saunders, pp 1094-1136.
7. Fairweather N, Bell C, Cochrane S, Chelly J, Wang S, Mostacciuolo ML, Monaco AR Haites NE (1994) Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1). Hum Mol Genet 3:29-34.
8. Hahn AF, Brown WF, Koopman WJ, Feasby TE (1990) X-linked dominant hereditary motor and sensory neuropathy. Brain 113:1511-1525.
9. Haites N, Fairweather N, Clark C, Kelly KF, Simpson S, Johnston AW (1989) Linkage in a family with X-linked Charcot-Marie-Tooth disease. Clin Genet 35:399-403.