✦ LIBER ✦

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

✍ Scribed by Jan Loeffen; Jan Smeitink; Ralf Triepels; Roel Smeets; Markus Schuelke; Rob Sengers; Frans Trijbels; Ben Hamel; Renier Mullaart; Lambert van den Heuvel

Book ID: 117852640
Publisher: American Society of Human Genetics
Year: 1998
Tongue: English
Weight: 847 KB
Volume: 63
Category: Article
ISSN: 0002-9297
DOI: 10.1086/302154

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Impaired complex I assembly in a Leigh s

Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene

✍ Cristina Ugalde; Ralf H. Triepels; Marieke J.H. Coenen; Lambert P. Van Den Heuve 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 335 KB 👁 2 views

A novel mutation in the human complex I

A novel mutation in the human complex I NDUFS7 subunit associated with Leigh syndrome

✍ Sophie Lebon; Diana Rodriguez; Delphine Bridoux; Amal Zerrad; Agnès Rötig; Arnol 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 310 KB

NDUFA10 mutations cause complex I defici

NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease

✍ Hoefs, Saskia J G; van Spronsen, Francjan J; Lenssen, Ellen W H; Nijtmans, Leo G 📂 Article 📅 2010 🏛 Nature Publishing Group 🌐 English ⚖ 320 KB

A catalytic defect in mitochondrial resp

A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome

✍ Lock Hock Ngu; Leo G. Nijtmans; Felix Distelmaier; Hanka Venselaar; Sjenet E. va 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 867 KB

Creatine monohydrate therapy in a Leigh

Creatine monohydrate therapy in a Leigh syndrome patient with A8344G mutation

✍ KIYOMI KOMURA; KAZUTOSHI NAKANO; KEIKO ISHIGAKI; MIKAKO TARASHIMA; TOMOHIRO NAKA 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 214 KB

Compound heterozygous mutations in the f

Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome

✍ B. Parfait; D. Chretien; A. Rötig; C. Marsac; A. Munnich; P. Rustin 📂 Article 📅 2000 🏛 Springer 🌐 English ⚖ 241 KB