## Abstract Startle disease or hyperekplexia (STHE; MIM 149400) is a rare disorder that is characterized by marked muscular hypertonia in infancy and an exaggerated startle response to unexpected acoustic or tactile stimuli. Mutations in the gene encoding the α‐1 subunit of the inhibitory glycine r
✦ LIBER ✦
Compound heterozygosity and nonsense mutations in the α1-subunit of the inhibitory glycine receptor in hyperekplexia
✍ Scribed by Mark I. Rees; Trevor M. Lewis; Behnaz Vafa; Colin Ferrie; Peter Corry; Fransesco Muntoni; Heinz Jungbluth; John B. Stephenson; Mike Kerr; Russell G. Snell; Peter R. Schofield; Michael J. Owen
- Publisher
- Springer
- Year
- 2001
- Tongue
- English
- Weight
- 107 KB
- Volume
- 109
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Identification of a de novo Lys304Gln mu
✍
Hoon-Chul Kang; Su Jeong You; Myung Jae Chey; Jong Sam Baik; Jong-Won Kim; Chang
📂
Article
📅
2008
🏛
John Wiley and Sons
🌐
English
⚖ 423 KB
End-plate acetylcholine receptor deficie
✍
Dr Andrew G. Engel; Kinji Ohno; Cecilia Bouzat; Steven M. Sine; Robert C. Griggs
📂
Article
📅
1996
🏛
John Wiley and Sons
🌐
English
⚖ 804 KB
Localization of rat glycine receptor α1
✍
Kerstin Piechotta; Franco Weth; Robert J. Harvey; Eckhard Friauf
📂
Article
📅
2001
🏛
John Wiley and Sons
🌐
English
⚖ 912 KB
Startle disease in an Italian family by
✍
Marco Seri; Alessandra Bolino; Luis Juan Vicente Galietta; Margherita Lerone; Ma
📂
Article
📅
1997
🏛
John Wiley and Sons
🌐
English
⚖ 73 KB
Effects of Mutating Leucine to Threonine
Effects of Mutating Leucine to Threonine in the M2 Segment of α1and β1Subunits of GABAAα1β1Receptors
✍
M.L. Tierney; B. Birnir; N.P. Pillai; J.D. Clements; S. M. Howitt; G. B. Cox; P.
📂
Article
📅
1996
🏛
Springer
🌐
English
⚖ 233 KB
A nonsense mutation (R242X) in the branc
✍
Jeffrey Chinsky; Melissa Appel; Shlomo Almashanu; Paul Costeas; Nicholas Ambulos
📂
Article
📅
1998
🏛
John Wiley and Sons
🌐
English
⚖ 136 KB
👁 1 views
Mutation analysis of DNA from cultured amniocytes with absent branched-chain -ketoacid dehydrogenase activity revealed a C to T transition producing a nonsense mutation (R242X) in exon 7 of the gene encoding the E1 subunit of this multienzyme complex (BCKDHA). This pregnancy occured in a large consa