✦ LIBER ✦

Childhood neurological presentation of a novel mitochondrial tRNAVal gene mutation

✍ Scribed by Emma L. Blakely; Joanna Poulton; Michael Pike; Fenella Wojnarowska; Douglass M. Turnbull; Robert McFarland; Robert W. Taylor

Book ID: 119301490
Publisher: Elsevier Science
Year: 2004
Tongue: English
Weight: 248 KB
Volume: 225
Category: Article
ISSN: 0022-510X
DOI: 10.1016/j.jns.2004.07.007

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel mutation in the mitochondrial tR

A novel mutation in the mitochondrial tRNAVal gene associated with a complex neurological presentation

✍ Valeria Tiranti; Leonardo D'Agruma; Davide Pareyson; Marina Mora; Franco Carrara 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 390 KB 👁 2 views

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

Variable presentation of nemaline myopat

Variable presentation of nemaline myopathy: Novel mutation of alpha actin gene

✍ Anthony A. Bouldin; Melissa A. Parisi; Nigel Laing; Kathleen Patterson; Sidney M 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 196 KB

## Abstract Nemaline myopathy is a rare disorder of varying severity and genetic etiology. We present two cases, a father and son, with a novel missense mutation in the alpha actin gene. Both have a history of early motor impairment, with the son's course being considerably more severe. This pair i

Heteroplasmic m.1624C>T mutation of the

Heteroplasmic m.1624C>T mutation of the mitochondrial tRNAVal gene in a proband and his mother with repeated consciousness disturbances

✍ Yoko Sangatsuda; Masayuki Nakamura; Akiyuki Tomiyasu; Akiko Deguchi; Yasutaka To 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 717 KB

G.P.3.08 Atypical myofiber changes of a

G.P.3.08 Atypical myofiber changes of a childhood mitochondrial DNA depletion syndrome with a novel thymidine kinase 2 gene mutation

✍ J. Collins; L.Y. Tang; P. Morehart; A. Myatt-Norman; L. Miles; L.J.C. Wong; B. W 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 51 KB

Atypical clinical presentation of primar

Atypical clinical presentation of primary hemophagocytic lymphohistiocytosis with a novel perforin1 gene mutation

✍ Elena Vrotsos, Manuela Soaita, Ziad Khatib, Carole Brathwaite… 📂 Article 📅 2012 🏛 Springer-Verlag 🌐 English ⚖ 291 KB