𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A novelPMP22mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes

✍ Scribed by Kleopas A. Kleopa; Domna-Maria Georgiou; Paschalis Nicolaou; Pantelitsa Koutsou; Eleftherios Papathanasiou; Theodoros Kyriakides; Kyproula Christodoulou


Publisher
Springer
Year
2004
Tongue
English
Weight
182 KB
Volume
5
Category
Article
ISSN
1364-6745

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Correlation between PMP-22 messenger mRN
✍ Dr. Angelo Schenone; Lucilla Nobbio; Claudia Caponnetto; Michele Abbruzzese; Gia πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 631 KB

## Abstract Hereditary neuropathy with liability to pressure palsies (HNPP) is associated with a deletion in chromosome 17p 11.2, which includes the gene for the peripheral myelin protein 22 (PMP‐22). A β€œgene dosage” effect is probably the mechanism underlying HNPP, but the amount of PMP‐22 mRNA in

Sonographic features in hereditary neuro
✍ Davyd R. Hooper; Wendy Lawson; Lisa Smith; Steven K. Baker πŸ“‚ Article πŸ“… 2011 πŸ› John Wiley and Sons 🌐 English βš– 93 KB

## Abstract __Introduction__: Diagnostic nerve ultrasound is becoming more commonly used by both radiologists and clinicians. The features of different neuromuscular conditions must be described to broaden our understanding and ability to interpret findings. __Methods__: Our study examines the sono