Charcot-Marie-Tooth type 1B neuropathy: A mutation at the single glycosylation site in the major peripheral myelin glycoprotein P0

Human Mutation

Volumn 8, Issue 2, 1996, Pages 185-186

  Blanquet Grossard, Françoise ^a   Pham Dinh, Danielle ^a   Dautigny, André ^a   Latour, Philippe ^b   Bonnebouche, Christine ^b   Diraison, Philippe ^c   Chapon, Françoise ^c   Chazot, Guy ^d   Vandenberghe, Antoon ^b,e  

^a CNRS   (France)

^b Hopital de l'Antiquaille   (France)

^c CAEN UNIVERSITY HOSPITAL   (France)

^d HÔPITAL NEUROLOGIQUE   (France)

^e UNIVERSITÉ LYON 1   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GLYCOPROTEIN; MYELIN;

ADULT; ARTICLE; CASE REPORT; DEMYELINATING DISEASE; FEMALE; GENE MAPPING; GENE MUTATION; GLYCOSYLATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN CELL; ONSET AGE; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; SCHWANN CELL; SINGLE STRAND CONFORMATION POLYMORPHISM;

CHARCOT-MARIE-TOOTH DISEASE; FEMALE; GLYCOSYLATION; HETEROZYGOTE; HUMANS; MIDDLE AGED; MYELIN PROTEINS; POINT MUTATION;

EID: 0029746710     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)8:2<185::AID-HUMU13>3.0.CO;2-Z     Document Type: Article

References (5)

1. Chance PF, Fischbeck KH (1994) Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies. Hum Mol Genet 3:1503-1507.
2. Filbin MT, Tennekoon GI (1993) Hemophilic adhesion of the myelin P0 requires glycosylation of both molecules in the homophilic pair. J Cell Biol 122:451-459.
3. Hayasaka K, Nanao K, Tahara M, Sato W, Takada G, Miura M, Uyemura K (1991) Isolation and sequence determination of cDNA encoding the major structural protein of human peripheral myelin. Biochem Biophys Res Commun 180:515-518.
4. Hayasaka K, Himoro M, Sawaishi Y, Nanao K, Takahashi T, Takada G, Nicholson GA, Ouvrier RA, Tachi N (1993) De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). Nature Genet 5:266-268.
5. Kulkens T, Bolhuis PA, Wolterman RA, Kemp S, Nijenhuis S, Valentijn LJ, Hensels GW, Jennekens FGI, De Visser M, Hoogendijk JE, Baas F (1993) Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B. Nature Genet 5:35-38.