✦ LIBER ✦

Single deletions in mitochondrial DNA – Molecular mechanisms and disease phenotypes in clinical practice

✍ Scribed by R.D.S. Pitceathly; S. Rahman; M.G. Hanna

Book ID: 116795262
Publisher: Elsevier Science
Year: 2012
Tongue: English
Weight: 395 KB
Volume: 22
Category: Article
ISSN: 0960-8966
DOI: 10.1016/j.nmd.2012.03.009

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Genotype and phenotype analyses in 136 p

Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions

✍ Shintaro Yamashita; Ichizo Nishino; Ikuya Nonaka; Yu-ichi Goto 📂 Article 📅 2008 🏛 Nature Publishing Group 🌐 English ⚖ 415 KB

Molecular histology of mitochondrial and

Molecular histology of mitochondrial and nuclear transcripts in the muscle of patients harbouring a single mitochondrial DNA deletion

✍ H. Carrier; Brigitte Burt-Pichat; Frédéric Flocard; Nathalie Guffon; Bénédicte M 📂 Article 📅 1995 🏛 Springer-Verlag 🌐 English ⚖ 517 KB

Progressive reversion of clinical and mo

Progressive reversion of clinical and molecular phenotype in a child with liver mitochondrial DNA depletion

✍ Pierre-Henri Ducluzeau; Alain Lachaux; Raymonde Bouvier; Hervé Duborjal; Georges 📂 Article 📅 2002 🏛 Elsevier Science 🌐 English ⚖ 203 KB

High levels of mitochondrial DNA deletio

High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease

✍ Bender, Andreas; Krishnan, Kim J; Morris, Christopher M; Taylor, Geoffrey A; Ree 📂 Article 📅 2006 🏛 Nature Publishing Group 🌐 English ⚖ 201 KB

Mitochondrial DNA diseases: Genotype and

Mitochondrial DNA diseases: Genotype and phenotype in leber's hereditary optic neuropathy

✍ A. E. Harding; P. Riordan-Eva; G. G. Govan 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 298 KB

Multiple mitochondrial DNA deletions and

Multiple mitochondrial DNA deletions and persistent hyperthermia in a patient with Brachmann-de Lange phenotype

✍ Melegh, Béla; Bock, Ildikó; Gáti, István; Méhes, Károlu 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 692 KB

In a newborn boy with characteristics of Brachmannde Lange syndrome (BDLS) high temperatures were observed on the second day aRer birth and recurred 2-6 times daily during the 7 months of the patient's life. After transient hypertonia hypotonia developed. In muscle biopsy specimen taken on the 51st