✦ LIBER ✦

Infantile SPASMS as presenting symptom of mitochondrial DNA 8993 T → G point mutation

✍ Scribed by Päivi Mäkelä-Bengs; Anu Suomalainen; Anna Majander; Juhani Rapola; Hannu Kalimo; Auli Nuutila; Helena Pihko

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Hearing evaluation in two sisters with a

✍ Yuki Sakai; Kimitaka Kaga; Kazuo Kodama; Asako Higuchi; Junko Miyamoto 📂 Article 📅 2004 🏛 Elsevier Science 🌐 English ⚖ 185 KB

Leigh syndrome and hypertrophic cardiomy

✍ Pastores, Gregory M. ;Santorelli, Filippo M. ;Shanske, Sara ;Gelb, Bruce D. ;Fyf 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 696 KB

Comparative biochemical studies of ATPas

✍ M. E. Vázquez-Memije; S. Shanske; F. M. Santorelli; P. Kranz-Eble; D. C. DeVivo; 📂 Article 📅 1998 🏛 Springer 🌐 English ⚖ 78 KB

Phenotypic Differences Between T → C and

✍ Tatsuya Fujii MD; PhD; Haruo Hattori MD; PhD; Yoshihisa Higuchi MD; Masahiro Tsu 📂 Article 📅 1998 🏛 Elsevier Science 🌐 English ⚖ 39 KB

Single cell quantification of the 8993T&

✍ Nadine Gigarel; Pierre F. Ray; Philippe Burlet; Nelly Frydman; Ghislaine Royer; 📂 Article 📅 2005 🏛 Elsevier Science 🌐 English ⚖ 194 KB

Low prevalence of mitochondrial DNA 3243

✍ R. Singh; E. Edghill; C. Bingham; S. Ellard; A. T. Hattersley; L. W. Harries 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 100 KB