✦ LIBER ✦

P54 MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle

✍ Scribed by E.L. Blakely; A. Butterworth; R.D.M. Hadden; I. Bodi; L. He; R. McFarland; R.W. Taylor

Book ID: 117670479
Publisher: Elsevier Science
Year: 2012
Tongue: English
Weight: 55 KB
Volume: 22
Category: Article
ISSN: 0960-8966
DOI: 10.1016/s0960-8966(12)70062-7

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

MPV17 mutation causes neuropathy and leu

MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle

✍ Emma L. Blakely; Anna Butterworth; Robert D.M. Hadden; Istvan Bodi; Langping He; 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 503 KB

A Heterozygous Truncating Mutation in RR

A Heterozygous Truncating Mutation in RRM2B Causes Autosomal-Dominant Progressive External Ophthalmoplegia with Multiple mtDNA Deletions

✍ Henna Tyynismaa; Emil Ylikallio; Mehul Patel; Maria J. Molnar; Ronald G. Haller; 📂 Article 📅 2009 🏛 American Society of Human Genetics 🌐 English ⚖ 472 KB

A p.R369G POLG2 mutation associated with

A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase γ subunits

✍ Kate Craig; Matthew J. Young; Emma L. Blakely; Matthew J. Longley; Douglass M. T 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 679 KB

Ophthalmoplegia, demyelinating neuropath

Ophthalmoplegia, demyelinating neuropathy, leukoencephalopathy, myopathy, and gastrointestinal dysfunction with multiple deletions of mitochondrial DNA: A mitochondrial multisystem disorder in search of a name

✍ Dr. Antonino Uncini; Dr. S. Servidei; Dr. G. Silvestri; Dr. G. Manfredi; Dr. M. 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 731 KB