Výsledky vyhledávání - "Russell Michael B"

Akademický článek

Two novel missense mutations in the myelin protein zero gene causes Charcot-Marie-Tooth type 2 and Déjérine-Sottas syndrome

Autor: Sand Jette C, Braathen Geir J, Russell Michael B

Publikováno v: BMC Research Notes, Vol 3, Iss 1, p 99 (2010)

Abstract Background The Charcot-Marie-Tooth (CMT) phenotype caused by mutation in the myelin protein zero (MPZ) gene varies considerably, from early onset and severe forms to late onset and milder forms. The mechanism is not well understood. The myel

Externí odkaz: https://doaj.org/article/5e7a8c8ed6bc46dfaf9bd52cc56d3588

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Akademický článek

MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families

Autor: Lobato Ana, Sand Jette C, Braathen Geir J, Høyer Helle, Russell Michael B

Publikováno v: BMC Medical Genetics, Vol 11, Iss 1, p 48 (2010)

Abstract Background Point mutations in the mitofusin 2 (MFN2) gene has been identified exclusively in Charcot-Marie-Tooth type 2 (CMT2), and in a single family with intermediate CMT. MFN2 point mutations are probably the most common cause of CMT2. Me

Externí odkaz: https://doaj.org/article/625380ca049645c7a4cc42a208ff63bc

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Akademický článek

Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease

Autor: Sand Jette C, Braathen Geir J, Bukholm Geir, Russell Michael B

Publikováno v: BMC Neurology, Vol 7, Iss 1, p 19 (2007)

Abstract Background X-linked Charcot-Marie Tooth (CMT) is caused by mutations in the connexin32 gene that encodes a polypeptide which is arranged in hexameric array and form gap junctions. Methods We describe two novel mutations in the connexin32 gen

Externí odkaz: https://doaj.org/article/4452f15d80634de4a386f998539f3a95

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