✦ LIBER ✦

Clinical and molecular heterogeneity in patients with mitochondrial encephalomyopathies due to complex I deficiency

✍ Scribed by T. Ichiki; M. Kobayashi; Y. Wada; M. Tanaka; T. Ozawa

Publisher: Springer
Year: 1988
Tongue: English
Weight: 289 KB
Volume: 11
Category: Article
ISSN: 0141-8955
DOI: 10.1007/bf01800387

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Benign mitochondrial encephalomyopathy i

Benign mitochondrial encephalomyopathy in a patient with complex I deficiency

✍ J. M. F. Trijbels; W. Ruitenbeek; R. C. A. Sengers; A. J. M. Janssen; B. A. van 📂 Article 📅 1996 🏛 Springer 🌐 English ⚖ 289 KB

Molecular and phenotypic heterogeneity i

Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to β-subunit mutations

✍ Ute Spiekerkoetter; Bin Sun; Zaza Khuchua; Michael J. Bennett; Arnold W. Strauss 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 241 KB

The mitochondrial trifunctional protein (TFP) is a multienzyme complex of the fatty acid beta-oxidation cycle. It is composed of four alpha-subunits (HADHA) harboring long-chain enoyl-CoA hydratase and long-chain L-3-hydroxyacyl-CoA dehydrogenase (LCHAD) and four beta-subunits (HADHB) harboring long

Increasing fat in the diet does not impr

Increasing fat in the diet does not improve muscle performance in patients with mitochondrial myopathy due to complex I deficiency

✍ K. Meer; M. J. Roef; J. B. C. Klerk; H. D. Bakker; G. P. A. Smit; B. T. Poll-The 📂 Article 📅 2005 🏛 Springer 🌐 English ⚖ 56 KB

Clinical differences in patients with mi

Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations

✍ M.E. Rubio-Gozalbo; K.P. Dijkman; L.P. van den Heuvel; R.C.A. Sengers; U. Wendel 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 255 KB 👁 2 views

Partial deficiency of complexes I and IV

Partial deficiency of complexes I and IV of the mitochondrial respiratory chain in skeletal muscle of two patients with mitochondrial myopathy

✍ 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

Clinical and biochemical heterogeneity i

Clinical and biochemical heterogeneity in females of a large pedigree with ornithine transcarbamylase deficiency due to the R141Q mutation

✍ Ahrens, Mary J.; Berry, Susan A.; Whitley, Chester B.; Markowitz, Dorothy J.; Pl 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 395 KB 👁 2 views

A large family with ornithine transcarbamylase deficiency due to mutation R141Q was ascertained through a propositus who presented with acute neonatal hyperammonemic coma. Of 13 females at risk, 11 were evaluated clinically and had laboratory studies performed. Seven were found to be heterozygous fo