Dok-7 Mutations Underlie a Neuromuscular Junction Synaptopathy-Reference-Cited by-同舟云学术

Dok-7 Mutations Underlie a Neuromuscular Junction Synaptopathy

Published:2006-09-29 Issue:5795 Volume:313 Page:1975-1978
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Beeson David¹²³⁴⁵,Higuchi Osamu¹²³⁴⁵,Palace Jackie¹²³⁴⁵,Cossins Judy¹²³⁴⁵,Spearman Hayley¹²³⁴⁵,Maxwell Susan¹²³⁴⁵,Newsom-Davis John¹²³⁴⁵,Burke Georgina¹²³⁴⁵,Fawcett Peter¹²³⁴⁵,Motomura Masakatsu¹²³⁴⁵,Müller Juliane S.¹²³⁴⁵,Lochmüller Hanns¹²³⁴⁵,Slater Clarke¹²³⁴⁵,Vincent Angela¹²³⁴⁵,Yamanashi Yuji¹²³⁴⁵

Affiliation:

1. Neurosciences Group, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK.

2. Department of Clinical Neurology, University of Oxford, Radcliffe Infirmary, Woodstock Road, Oxford OX2 6HE, UK.

3. School of Neurology, Neurobiology, and Psychiatry, University of Newcastle, NE2 4HH, UK.

4. Department of Cell Regulation, Medical Research Institute, Tokyo Medical and Dental University, Tokyo 113–8510, Japan.

5. First Department of Internal Medicine, Nagasaki University, Nagasaki 852–8501, Japan.

Abstract

Congenital myasthenic syndromes (CMSs) are a group of inherited disorders of neuromuscular transmission characterized by fatigable muscle weakness. One major subgroup of patients shows a characteristic “limb girdle” pattern of muscle weakness, in which the muscles have small, simplified neuromuscular junctions but normal acetylcholine receptor and acetylcholinesterase function. We showed that recessive inheritance of mutations in Dok-7, which result in a defective structure of the neuromuscular junction, is a cause of CMS with proximal muscle weakness.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

Reference19 articles.

1. Current understanding of congenital myasthenic syndromes

2. 126th International Workshop: Congenital Myasthenic Syndromes, 24–26 September 2004, Naarden, The Netherlands

3. Pre- and post-synaptic abnormalities associated with impaired neuromuscular transmission in a group of patients with 'limb-girdle myasthenia'

4. Induction, assembly, maturation and maintenance of a postsynaptic apparatus

5. Patterning of Muscle Acetylcholine Receptor Gene Expression in the Absence of Motor Innervation

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