De novo Ser72Leu mutation in the peripheral myelin protein 22 in two Polish patients with a severe from of Charcot-Marie-Tooth disease

• Autorzy: Kochanski A. , Kabzinska D.
• Języki publikacji: EN

Abstrakty

EN

To date, 12 cases of heterozygous Ser72Leu mutations in the peripheral myelin protein 22 have been reported in patients suffering from severe demyelinating form of Charcot-Marie-Tooth disease (CMT1) and congenital hypomyelinating neuropathy (CHN) [MIM# 605253]. In the present study we report two cases of de novo S72L mu­tations in the PMP22 gene detected in patients of Polish origin suffering from CMT1 disease.

Słowa kluczowe

EN

Charcot-Marie-Tooth disease; human disease; peripheral myelin protein; patient; PMP22 gene; S72L mutation; gene mutation

• Wydawca: -
• Czasopismo: Acta Biochimica Polonica
• Rocznik: 2004
• Tom: 51
• Numer: 4
• Opis fizyczny: p.1047-1050,fig.,ref.

Twórcy

autor

Kochanski A.

• Polish Academy of Sciences, A.Pawinskiego 5, 02-106 Warsaw, Poland

autor

Kabzinska D.

Bibliografia

• Abe KT, Lino AM, Hirata MT, Pavanello RC, Brotto MW, Marchiori PE, Zatz M. (2004) Neuromuscul Disord.; 14: 313-20.
• Chance PF, Alderson MK, Leppig KA, Lensch MW, Matsunami N, Smith B, Swanson PD, Odelberg SJ, Disteche CM, Bird TD. (1993) Cell.; 72: 143-51.
• Harding AE, Thomas PK. (1980) Brain.; 103: 259-80.
• Ionasescu VV, Searby C, Greenberg SA. (1996) JMed Genet.; 33: 1048-9.
• Marques W Jr, Thomas PK, Sweeney MG, Carr L, Wood NW. (1998) Ann Neurol.; 43: 680-3.
• Nodera H, Nishimura M, Logigiain EL. (2003) Neurology.; 60: 1863-4.
• Numakura C, Lin C, Ikegami T, Guldberg P, Hayasaka H. (2002) Hum Mutat.; 20: 392-8.
• Pareek S, Suter U, Snipes J, Welcher AA, Shooter EM, Murphy RA. (1993) JBiol Chem.; 268: 10372-9.
• Raeymaekers P, Timmerman V, Nelis E, De Jonghe P, Hoogendijk JE, Baas F, Barker DF, Martin JJ, De Visser M, Bolhuis PA et al. (1991) Neuromuscul Disord.; 1: 93-7.
• Reilly MM. (2000) Curr Opin Neurol.; 13: 561-4.
• Roa BB, Dyck PJ, Marks HG, Chance PF, Lupski JR. (1993) Nat Genet.; 5: 269-73. Sahenk Z, Chen L, Freimer M. (1998) Neurology.; 51: 702-7. Schneider C, King R, Philipson L. (1988) Cell.; 54: 787-93.
• Simonati A, Fabrizi GM, Pasquinelli A, Taioli F, Cavallaro T, Morbin M, Marcon G, Papini M, Rizzuto N. (1999) Neuromuscul Disord.; 9: 257-61.
• Skre H. (1974) Clin Genet.; 6: 98-118.
• Suter U, Welcher A, Ozcelik T, Ozcelik T, Snipes GJ, Kosaras B, Francke V, Billings-Gagliardi S, Sidman RC, Shooter EM. (1992a) Nature.; 356: 241-4.
• Suter U, Moskov J, Welcher A, Snipes GJ, Kosaras B, Sidman RL, Buchbertal A, Shooter EM. (1992b) Proc Natl Acad Sci USA.; 89: 4382-6.
• Timmerman V, Nelis E, Van Hul W, Nieuwhijisen BW, Chen KL, Wang S, Ben Othmane K, Cullen B, Learch RJ, Hanemann CO. (1992) Nat Genet.; 1: 171-5.
• Welcher A, Suter U, De Leon M, Snipes G, Shooter EM. (1991) Proc Natl Acad Sci USA.; 88: 7195-9.