✦ LIBER ✦

Compound mitochondrial DNA mutations in a neurological patient with ataxia, myoclonus and deafness

✍ Scribed by PARK, JI HOON; YOON, BO RAM; KIM, HYE JIN; LEE, PHIL HYU; CHOI, BYUNG-OK; CHUNG, KI WHA

Book ID: 125377736
Publisher: Indian Academy of Sciences
Year: 2014
Tongue: English
Weight: 1004 KB
Volume: 93
Category: Article
ISSN: 0022-1333
DOI: 10.1007/s12041-014-0317-8

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Maternally inherited diabetes and deafne

Maternally inherited diabetes and deafness with cerebellar ataxia: a new clinical phenotype associated with the mitochondrial DNA 3243 mutation

✍ M. Arai; Shin-ichi Ohshima 📂 Article 📅 1997 🏛 Springer 🌐 English ⚖ 36 KB

Cortical reflex myoclonus in patients wi

Cortical reflex myoclonus in patients with the mitochondrial DNA transfer RNALys(8344)(MERRF) mutation

✍ P. D. Thompson; S. R. Hammans; A. E. Harding 📂 Article 📅 1994 🏛 Springer 🌐 English ⚖ 552 KB

Ataxia plus myoclonus in a 23-year-old p

Ataxia plus myoclonus in a 23-year-old patient due to STUB1 mutations

✍ Cordoba, Marta (author);Rodriguez-Quiroga, Sergio (author);Gatto, Emilia Mabel ( 📂 Article 📅 2014 🏛 Lippincott Williams and Wilkins 🌐 English ⚖ 146 KB

Ataxia plus myoclonus in a 23-year-old p

Ataxia plus myoclonus in a 23-year-old patient due to STUB1 mutations

✍ Cordoba, Marta (author);Rodriguez-Quiroga, Sergio (author);Gatto, Emilia Mabel ( 📂 Article 📅 2014 🏛 Lippincott Williams and Wilkins 🌐 English ⚖ 146 KB

A new SCARB2 mutation in a patient with

A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure

✍ Guerrero-López, Rosa; García-Ruiz, Pedro J.; Giráldez, Beatriz G.; Durán-Herrera 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 175 KB

A new SCARB2 mutation in a patient with

A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure

✍ Perandones, Claudia; Pellene, Luis Alejandro; Micheli, Federcio 📂 Article 📅 2013 🏛 John Wiley and Sons 🌐 English ⚖ 110 KB