✦ LIBER ✦

Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNAser(UCN) gene

✍ Scribed by Dr. Michaela Jaksch; Thomas Klopstock; Gerd Kurlemann; Marion Dörner; Sabine Hofmann; Stephanie Kleinle; Stephan Hegemann; Markus Weissert; Josef MüLler-Höcker; Dieter Pongratz; Klus-Dieter Gerbitz

Book ID: 102708402
Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 757 KB
Volume: 44
Category: Article
ISSN: 0364-5134
DOI: 10.1002/ana.410440409

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Hearing impairment and neurological dysf

Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene

✍ Verhoeven, Kristien; Ensink, Robbert JH; Tiranti, Valeria; Huygen, Patrick LM; J 📂 Article 📅 1999 🏛 Nature Publishing Group 🌐 English ⚖ 145 KB

Late-onset mitochondrial myopathy with d

Late-onset mitochondrial myopathy with dystrophic changes due to a G7497A mutation in the mitochondrial tRNASer (UCN)gene

✍ Tobias Müller; Marcus Deschauer; Stephan Neudecker; Stephan Zierz 📂 Article 📅 2005 🏛 Springer-Verlag 🌐 English ⚖ 458 KB

Cosegregation of the G7444A mutation in

Cosegregation of the G7444A mutation in the mitochondrial COI/tRNASer(UCN) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and nonsyndromic hearing loss

✍ Huijun Yuan; Yaping Qian; Yanjun Xu; Juyang Cao; Linna Bai; Weidong Shen; Fei Ji 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 173 KB 👁 2 views

Identification of 45 novel mutations in

Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

✍ Vilma-Lotta Lehtokari; Katarina Pelin; Maria Sandbacka; Salla Ranta; Kati Donner 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 375 KB 👁 1 views

Nemaline myopathy (NM) is a clinically and genetically heterogeneous disorder of skeletal muscle caused by mutations in at least five different genes encoding thin filament proteins of the striated muscle sarcomere. We have previously described 18 different mutations in the last 42 exons of the nebu

Mutational spectrum of the EPM2A gene in

Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions

✍ Gómez-Garre, Pilar; Sanz, Yolanda; de Córdoba, Santiago Rodríguez; Serratosa, Jo 📂 Article 📅 2000 🏛 Nature Publishing Group 🌐 English ⚖ 161 KB

Mitochondrial DNA mutations in respirato

Mitochondrial DNA mutations in respiratory complex-I in never-smoker lung cancer patients contribute to lung cancer progression and associated with EGFR gene mutation

✍ Santanu Dasgupta; Ethan Soudry; Nitai Mukhopadhyay; Chunbo Shao; John Yee; Steph 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 252 KB 👁 1 views

## Abstract Mitochondrial DNA (mtDNA) mutations were reported in different cancers. However, the nature and role of mtDNA mutation in never‐smoker lung cancer patients including patients with epidermal growth factor receptor (__EGFR__) and __KRAS__ gene mutation are unknown. In the present study, w