✦ LIBER ✦

The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome

✍ Scribed by VICTORIA NESBITT; PATRICK J MORRISON; ELLEN CRUSHELL; DEIRDRE E DONNELLY; CHARLOTTE L ALSTON; LANGPING HE; ROBERT MCFARLAND; ROBERT W TAYLOR

Book ID: 115266766
Publisher: John Wiley and Sons
Year: 2012
Tongue: English
Weight: 435 KB
Volume: 54
Category: Article
ISSN: 0012-1622
DOI: 10.1111/j.1469-8749.2012.04224.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Illness-induced exacerbation of Leigh sy

Illness-induced exacerbation of Leigh syndrome in a patient with the MTATP6 mutation, m. 9185 T>C

✍ Russell P. Saneto; Keshav K. Singh 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 896 KB

Hypothyroidism could be the only manifes

Hypothyroidism could be the only manifestation of mitochondrial T8993C mutation in Leigh syndrome

✍ Tomoum, Hoda; Elsayed, Solaf M.; Berry-Kravis, Elizabeth 📂 Article 📅 2013 🏛 Springer (Biomed Central Ltd.) 🌐 English ⚖ 388 KB

The First Nuclear-Encoded Complex I Muta

The First Nuclear-Encoded Complex I Mutation in a Patient with Leigh Syndrome

✍ Jan Loeffen; Jan Smeitink; Ralf Triepels; Roel Smeets; Markus Schuelke; Rob Seng 📂 Article 📅 1998 🏛 American Society of Human Genetics 🌐 English ⚖ 847 KB

The mitochondrial 13513G>A mutation is a

The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle

✍ Ariel Brautbar; Jing Wang; Jose E. Abdenur; Richard C. Chang; Janet A. Thomas; T 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 340 KB

A previously undescribed leukodystrophy

A previously undescribed leukodystrophy in Leigh syndrome associated with T9176C mutation of the mitochondrial ATPase 6 gene

✍ Po-Cheng Hung; Huei-Shyong Wang 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 191 KB

We report two male Taiwanese siblings in whom the T→C point mutation at nucleotide 9176 of the mitochondrial ATPase 6 gene (m.9176T>C mutation) was associated with early onset hypotonia, lactic acidosis, and death due to respiratory arrest at 7 and 10 months old. Brain MRI showed lesions over diffus

Clinical and biochemical spectrum of mit

Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene

✍ MA Ramos-Arroyo; J Hualde; A Ayechu; L De Meirleir; S Seneca; N Nadal; P Briones 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 70 KB