𝔖 Bobbio Scriptorium
✦   LIBER   ✦

New familial mitochondrial encephalopathy with macrocephaly, cardiomyopathy, and complex I deficiency

✍ Scribed by Dr. C. Dionisi-Vici; W. Ruitenbeek; G. Fariello; H. Bentlage; R. J. A. Wanders; H. Schägger; C. Bosman; C. Piantadosi; G. Sabetta; E. Bertini


Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
550 KB
Volume
42
Category
Article
ISSN
0364-5134

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Mutant NDUFV2 subunit of mitochondrial c
✍ Paule Bénit; Réjane Beugnot; Dominique Chretien; Irina Giurgea; Pascale De Lonla 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 140 KB

Respiratory chain complex I deficiencies represent a genetically heterogeneous group of diseases resulting from mutations in either mitochondrial or nuclear DNA. Combination of denaturing high performance liquid chromatography and sequence analysis allowed us to show that a 4-bp deletion in intron 2

Partial deficiency of complexes I and IV
✍ J. Bleistein; S. Zierz 📂 Article 📅 1989 🏛 Springer 🌐 English ⚖ 896 KB

Respiratory chain enzymes were studied in isolated mitochondria of two patients with mitochondrial myopathy. Both patients had been suffering from chronic progressive external ophthalmoplegia and abnormal muscular fatigability since late childhood. One of the patients exhibited the complete triad of