𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A novel GLRA1 mutation in a recessive hyperekplexia pedigree

✍ Scribed by Rob J. Forsyth; Artemis D. Gika; Ieke Ginjaar; Marina A.J. Tijssen

Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
71 KB
Volume
22
Category
Article
ISSN
0885-3185

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

We report the identification of a novel Y228C mutation within the M1 trans‐membrane domain of the GLRA1 subunit of the glycine receptor responsible for a severe recessive hyperekplexia phenotype in a Kurdish pedigree. Β© 2007 Movement Disorder Society

πŸ“œ SIMILAR VOLUMES

Recessive hyperekplexia due to a new mut
Recessive hyperekplexia due to a new mutation (R100H) in the GLRA1 gene
✍ Eliecer Coto; Daniel Armenta; RaΓΊl Espinosa; JoaquΓ­n Argente; MΓ³nica G. Castro; πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 65 KB

## Abstract Hyperekplexia is commonly familial and with dominant transmission. The gene involved, __GLRA1,__ encodes the Ξ±1 subunit of the glycine receptor. We describe 3 affected children homozygous for a new mutation, R100H. Both parents were heterozygous carriers; while the father was healthy, t

A novel mitochondrial point mutation in
A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness
✍ Fiona M. Reid; Guy A. Vernham; Howard T. Jacobs πŸ“‚ Article πŸ“… 1994 πŸ› John Wiley and Sons 🌐 English βš– 647 KB

We have detected a novel mitochondrial mutation in a maternal pedigree, at least 13 of whose members have sensorineural hearing loss of varying severity, but who exhibit no other pathological features. The mutation, at np 7445, converts the 3' terminal T residue of tRNA-ser(UCN) to a C, and also bri