✦ LIBER ✦

Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene

✍ Scribed by E. Leshinsky-Silver; D. Lev; Z. Tzofi-Berman; S. Cohen; A. Saada; M. Yanoov-Sharav; E. Gilad; T. Lerman-Sagie

Book ID: 116290896
Publisher: Elsevier Science
Year: 2005
Tongue: English
Weight: 433 KB
Volume: 334
Category: Article
ISSN: 0006-291X
DOI: 10.1016/j.bbrc.2005.06.134

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Leigh disease presenting in utero due to

Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA–ND3

✍ Esther Leshinsky-Silver; Dorit Lev; Gustavo Malinger; Daniel Shapira; Sarit Cohe 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 709 KB

M.P.1.06 A novel mutation in the mitocho

M.P.1.06 A novel mutation in the mitochondrial ND3 gene causing Leigh syndrome with late-onset neurological decline

✍ M. Tchikviladzé; P. Laforêt; B. Eymard; F. Delbos; S. Filaut; A. Lombès; C. Jard 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 47 KB

Fulminant Leigh syndrome and sudden unex

Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene

✍ C. Dionisi-Vici; S. Seneca; M. Zeviani; G. Fariello; M. Rimoldi; E. Bertini; L. 📂 Article 📅 1998 🏛 Springer 🌐 English ⚖ 170 KB

A novel mutation of the NDUFS7 gene lead

A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome

✍ Sophie Lebon; Limor Minai; Dominique Chretien; Johanna Corcos; Valérie Serre; No 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 197 KB

Unilateral focal polymicrogyria in a pat

Unilateral focal polymicrogyria in a patient with classical Aarskog–Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1

✍ Armand Bottani; Alfredo Orrico; Lucia Galli; Olivier Karam; Charles-André Haengg 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 224 KB 👁 2 views