A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia
about
sameAs
Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy numberPathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy.A novel m.7539C>T point mutation in the mt-tRNA(Asp) gene associated with multisystemic mitochondrial disease.SANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions.The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity.Mitochondrial diseases: a nosological update.A novel Twinkle (PEO1) gene mutation in a Chinese family with adPEOTWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review.Twinkle mutations in two Chinese families with autosomal dominant progressive external ophthalmoplegia.Prevalence of Headache in Patients With Mitochondrial Disease: A Cross-Sectional Study.
P2860
Q28290165-0A0B9CBA-CFB5-4FF3-94F8-F42836E62ED9Q30316651-2BA85244-1187-4197-A5FD-DE01745EC8BEQ30316940-0B54C5F3-C68B-498E-B30D-0293F06C3B5BQ30317135-08EEAA30-3789-417C-AB93-D4C3D5AACE0AQ33871683-2149B623-A28E-424B-BA0C-BC294C69D6D2Q34144719-B13D6C0D-5B12-4C23-9226-CF32E1773511Q36765849-D8AA56DB-AEE5-4443-8BEE-157B7039041FQ36965757-42111817-75AE-4362-B021-191A90EEE20CQ37794205-6E7B1124-5F40-4155-AAD4-06E756F81576Q46085618-5DA50F8E-B10E-49C5-AF14-DE79F84212FBQ47594541-6113046B-F3D7-49E8-94EE-8DDCAA44E82E
P2860
A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia
description
2003 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2003
@ast
im September 2003 veröffentlichter wissenschaftlicher Artikel
@de
scientific article (publication date: September 2003)
@en
vedecký článok (publikovaný 2003-09)
@sk
vědecký článek publikovaný v roce 2003
@cs
wetenschappelijk artikel (gepubliceerd in 2003-09)
@nl
наукова стаття, опублікована у вересні 2003
@uk
مقالة علمية (نشرت في سبتمبر 2003)
@ar
name
A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia
@ast
A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia
@en
A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia
@nl
type
label
A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia
@ast
A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia
@en
A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia
@nl
prefLabel
A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia
@ast
A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia
@en
A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia
@nl
P2093
P1476
A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia
@en
P2093
Douglass M Turnbull
Langping He
Marcus Deschauer
Reinhard Kiefer
Robert W Taylor
Stephan Zierz
P304
P356
10.1016/S0960-8966(03)00071-3
P407
P577
2003-09-01T00:00:00Z