𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Clinical and genetic analysis of CMT1B in a Nigerian family

✍ Scribed by R. Kakar; W. Ma; A. Dutra; W.K. Seltzer; R.P. Grewal


Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
59 KB
Volume
27
Category
Article
ISSN
0148-639X

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Novel mutation of the myelin P0 gene in
✍ E Sorour; J MacMillan; M Upadhyaya πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 108 KB πŸ‘ 2 views

## Communicated by Martin Bobrow below knee amputations for severe foot deformities. All affected individuals had distal muscle weakness and wasting of upper and lower limbs, tendon stretch hypo/areflexia, and distal sensory impairment. The mean median nerve motor conduction velocity of affected f

Facilitated diagnosis of CMT1A duplicati
✍ Tohru Ikegami; Hiroyuki Ikeda; Phillip F. Chance; Hidenori Kiyosawa; Masahiko Ya πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 125 KB πŸ‘ 2 views

Charcot-Marie-Tooth disease type 1A (CMT1A) is a common autosomal dominant demyelinating peripheral neuropathy. Most patients with CMT1A have been found to have a 1.5 megabase tandem DNA duplication in chromosome 17p11.2-12. Meiotic unequal crossover mediated by the CMT1A-REP repeat is a proposed me

Clinical and genetic study of a large SP
✍ Antonio Orlacchio; Toshitaka Kawarai; Fabrizio Gaudiello; Antonio Totaro; Orazio πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 173 KB

## Abstract A novel __SPG4__ 906delT frame‐shift mutation in exon 6 was identified in a large Italian family with an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Intrafamilial phenotypic variations observed in the pedigree included spasticity and additional clinical features, s

A clinical and molecular genetic study o
✍ T. T. Warner; L. D. Williams; R. W. H. Walker; F. Flinter; S. A. Robb; S. E. Bun πŸ“‚ Article πŸ“… 1995 πŸ› John Wiley and Sons 🌐 English βš– 748 KB

Dentatorubropallidoluysian atrophy is a neurodegenerative disorder with characteristic pathology, chiefly described in reports from Japan, and is associated with an unstable CAG trinucleotide repeat in a gene on chromosome 12. We describe four European families, three British and one Maltese, with t