𝔖 Bobbio Scriptorium
✦   LIBER   ✦

PMP22 expression in CMT1A neuropathy

✍ Scribed by C. O. Hanemann; G. Stoll; H. W MüLler


Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
126 KB
Volume
37
Category
Article
ISSN
0364-5134

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Dejerine-Sottas neuropathy in mother and
✍ Victor V. Ionasescu; Charles C. Searby; Rebecca Ionasescu; Sansnee Chatkupt; Nit 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 55 KB 👁 1 views

We studied a 25-year-old black woman with healthy parents and her 2-year, 11-month-old son. Her motor development was delayed and she started to walk with support when she was 6 years old. She never walked independently and had always used a wheelchair. Neurological evaluation showed severe weakness

Studies on the effects of altered PMP22
✍ Donatella D'Urso; Corinne Schmalenbach; Georg Zoidl; Reinhard Prior; Hans Werner 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 300 KB 👁 2 views

Severe inherited dysmyelinating diseases of the peripheral nervous system, the Charcot-Marie-Tooth type1A disease (CMT1A) and the hereditary neuropathy with liability to pressure palsies (HNPP) are associated with a large DNA duplication or deletion of a chromosomal region containing the peripheral

Expression analysis of the PMP22 gene in
✍ Kathrin Hühne; Oksoon Park; Thomas Liehr; Bernd Rautenstrauss 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 227 KB 👁 2 views

Previously we reported the amplification of the peripheral myelin protein 22 (PMP22) gene in cell lines of human osteogenic and glioma tumors. PMP22 normally is expressed at high levels in Schwann cells of the peripheral nervous system and is suggested to function as a structural protein of the myel

Clustering of CMT1A duplication breakpoi
✍ Masahiko Yamamoto; Marcel P. Keller; Takeshi Yasuda; Kiyoshi Hayasaka; Akio Ohni 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 164 KB

The CMT1A-REP repeat is proposed to mediate unequal crossover leading to a 1.5 Mb duplication in chromosome 17p11.2-12 associated with Charcot-Marie-Tooth neuropathy type 1A (CMT1A). There is an apparent recombinational "hotspot" in the CMT1A-REP repeat since the majority of crossover breakpoints fo