✦ LIBER ✦

Late-onset CMT phenotype caused by a novel mutation in the MPZ gene

✍ Scribed by G. O'Connor; P. McNamara; D. Bradley; S. Connolly; Y. Langan; J. Redmond

Book ID: 115236412
Publisher: John Wiley and Sons
Year: 2012
Tongue: English
Weight: 427 KB
Volume: 19
Category: Article
ISSN: 1351-5101
DOI: 10.1111/j.1468-1331.2012.03727.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Late-onset CMT2 associated with a novel

Late-onset CMT2 associated with a novel missense mutation in the cytoplasmic domain of the MPZ gene

✍ Hirotaka Shimizu; Nobuyuki Oka; Toshitaka Kawarai; Koichiro Taniguchi; Naoki Saj 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 332 KB

N.P.3 04 A novel Pro105Thr mutation in t

N.P.3 04 A novel Pro105Thr mutation in the MPZ gene causes late onset CMT2 disease with hearing impairment

✍ A. Kochański; D. Kabzińska; T. Korwin-Piotrowska; H. Drechsler; H. Drac; I. Haus 📂 Article 📅 2006 🏛 Elsevier Science 🌐 English ⚖ 44 KB

Novel C59T leader peptide mutation in th

Novel C59T leader peptide mutation in the MPZ gene associated with late-onset, axonal, sensorimotor polyneuropathy

✍ J. Finsterer; G. Miltenberger; H. Rauschka; A. Janecke 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 615 KB

Late-onset nonketotic hyperglycinemia ca

Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene

✍ Catherine Brunel-Guitton; Brett Casey; Marion Coulter-Mackie; Hilary Vallance; D 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 267 KB

Late-onset adrenal hypoplasia congenita

Late-onset adrenal hypoplasia congenita caused by a novel mutation of theDAX-1gene

✍ Fan Yang; Keiichi Hanaki; Tomoe Kinoshita; Yuki Kawashima; Jun-ichi Nagaishi; Su 📂 Article 📅 2008 🏛 Springer 🌐 English ⚖ 112 KB

Charcot–marie–tooth disease with interme

Charcot–marie–tooth disease with intermediate conduction velocities caused by a novel mutation in the MPZ gene

✍ Isabel Banchs; Carlos Casasnovas; Jordi Montero; Victor Volpini; Juan Antonio Ma 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 511 KB

## Abstract Charcot–Marie–Tooth (CMT) disease is a heterogeneous group of inherited sensory and motor neuropathies. Mutations in the gene that encodes for myelin protein zero (__MPZ__) can produce different phenotypes: CMT1 (with low conduction velocities), CMT2 (less frequent and with unaffected c