✦ LIBER ✦

Myasthenic Syndromes Attributed to Mutations Affecting the Epsilon Subunit of the Acetylcholine Receptor

✍ Scribed by A. G. ENGEL; D. O. HUTCHINSON; S. NAKANO; L. MURPHY; R. C. GRIGGS; Y. GU; Z. W. HALL; J. LINDSTROM

Book ID: 119868563
Publisher: John Wiley and Sons
Year: 1993
Tongue: English
Weight: 750 KB
Volume: 681
Category: Article
ISSN: 0890-6564
DOI: 10.1111/j.1749-6632.1993.tb22933.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutation of the acetylcholine receptor ε

Mutation of the acetylcholine receptor ε-subunit promoter in congenital myasthenic syndrome

✍ Philip Nichols; Rebecca Croxen; Angela Vincent; Richard Rutter; Michael Hutchins 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 713 KB

Congenital myasthenic syndrome comprises a heterogeneous group of inherited disorders of neuromuscular transmission. Acetylcholine receptor (AChR) deficiency is the most common form of congenital myasthenic syndrome and in most cases results from mutations within the coding region of the AChR subuni

Congenital Myasthenic Syndrome in Cattle

Congenital Myasthenic Syndrome in Cattle due to Homozygosity for a Truncating Mutation in the Acetylcholine Receptor (AChR) Epsilon-Subunit Gene

✍ JOERN P. SIEB; SIMONE KRANER; PETER N. THOMPSON; ORTRUD K. STEINLEIN 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 89 KB

Myasthenic syndromes in Turkish kinships

Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor

✍ Kinji Ohno; Banu Anlar; Emire Özdirim; Joan M. Brengman; Jan L. DeBleecker; Dr. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 959 KB

Congenital Myasthenic Syndrome Attribute

Congenital Myasthenic Syndrome Attributed to an Abnormal Interaction of Acetylcholine with Its Receptor

✍ O. UCHITEL; A. G. ENGEL; T. J. WALLS; A. NAGEL; V. BRIL; V. F. TRASTEK 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 497 KB

Frameshifting and Splice-Site Mutations

Frameshifting and Splice-Site Mutations in the Acetylcholine Receptor ɛ Subunit Gene in Three Turkish Kinships with Congenital Myasthenic Syndromes

✍ KINJI OHNO; BANU ANLAR; EMIRE ÖZDIRIM; JOAN M. BRENGMAN; ANDREW G. ENGEL 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 418 KB

Fast-channel congenital myasthenic syndr

Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the α–ε subunit interface

✍ Webster, Richard; Liu, Wei-Wei; Chaouch, Amina; Lochmüller, Hanns; Beeson, David 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 336 KB