✦ LIBER ✦

Clinical and molecular findings in four new patients harbouring the mtDNA 8993T'C mutation

✍ Scribed by L. Vilarinho; C. Barbot; R. Carrozzo; E. Calado; A. Tessa; C. Dionisi-Vici; A. Guimarães; F.M. Santorelli

Book ID: 110325477
Publisher: Springer
Year: 2001
Tongue: English
Weight: 45 KB
Volume: 24
Category: Article
ISSN: 0141-8955
DOI: 10.1023/a:1013908728445

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

NMP022 Heterogeneous clinical and MRI/MR

NMP022 Heterogeneous clinical and MRI/MRS presentation of the mtDNA T8993C mutation in a large family with maternal inherited NARP/MILS

✍ Georg M. Stettner; S. Dreha-Kulaczewski; J. Gärtner; E. Wilichowski 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 41 KB

Clinical and biochemical characteristics

Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations

✍ Eva Morava; Richard J. Rodenburg; Frans Hol; Maaike de Vries; Antoon Janssen; La 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 117 KB 👁 2 views

We retrospectively analyzed the clinical, histological, and biochemical data of 11 children, five of which carried the maternally-inherited mitochondrial T8993C and six carrying the T8993G point mutations in the ATP synthase 6 gene. The percentage of heteroplasmy was 95% or higher in muscle and in b

Leber’s hereditary optic neuropathy: cli

Leber’s hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene

✍ D. Besch; Beate Leo-Kottler; Eberhart Zrenner; Bernd Wissinger 📂 Article 📅 1999 🏛 Springer-Verlag 🌐 English ⚖ 761 KB

Molecular and clinical characterization

Molecular and clinical characterization in Japanese and Korean patients with Hailey–Hailey disease: Six new mutations in the ATP2C1 gene

✍ Hamada, Takahiro; Fukuda, Shunpei; Sakaguchi, Sachiko; Yasumoto, Shinichiro; Kim 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 358 KB

Hutchinson–Gilford progeria syndrome: cl

Hutchinson–Gilford progeria syndrome: clinical findings in three patients carrying the G608G mutation in LMNA and review of the literature

✍ J. Mazereeuw-Hautier; L.C. Wilson; S. Mohammed; D. Smallwood; S. Shackleton; D.J 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 530 KB

Clinical and laboratory findings in four

Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease

✍ A. McConkie-Rosell; C. Wilson; D. A. Piccoli; J. Boyle; T. De Clue; P. Kishnani; 📂 Article 📅 1996 🏛 Springer 🌐 English ⚖ 662 KB