Neuromotor synapses in Escobar syndrome-Reference-Cited by-同舟云学术

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Neuromotor synapses in Escobar syndrome

Published:2013-08-16 Issue:12 Volume:161 Page:3042-3048
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Robinson Karyn G.¹,Viereck Matthew J.¹,Margiotta Megan V.¹,Gripp Karen W.²,Abdul-Rahman Omar A.³,Akins Robert E.¹

Affiliation:

1. Nemours Biomedical Research; Alfred I. duPont Hospital for Children; Wilmington Delaware

2. Division of Medical Genetics; Alfred I. duPont Hospital for Children; Wilmington Delaware

3. Department of Pediatrics; University of Mississippi Medical Center; Jackson Mississippi

Funder

Nemours Foundation

Swank Foundation

NIH-NIGMS COBRE Program

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36154/fullpdf

Reference17 articles.

1. Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: A review;Chen;Taiwan J Obstet Gynecol,2012

2. Development of innervation of skeletal muscle fibers in man: Relation to acetylcholine receptors;Hesselmans;Anat Rec,1993

3. Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit;Hoffmann;Am J Hum Genet,2006

4. Clinical phenotype and the lack of mutations in the CHRNG, CHRND, and CHRNA1 genes in two Indian families with Escobar syndrome;Kodaganur;Clin Dysmorphol,2013

5. Essential roles of the acetylcholine receptor gamma-subunit in neuromuscular synaptic patterning;Liu;Development,2008

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1. Arthrogryposis is a descriptive term, not a specific disease entity: Escobar Syndrome is an example;Minerva Pediatrics;2024-02

2. Combining Gene Mutation with Expression of Candidate Genes to Improve Diagnosis of Escobar Syndrome;Genes;2022-09-27

3. A Truncating Variant of CHRNG as a Cause of Escobar Syndrome: A Multiple Pterygium Syndrome Subtype;Journal of Pediatric Genetics;2020-08-26

4. Neuromuscular Junction Changes in Spastic Cerebral Palsy;Cerebral Palsy;2020

5. CHRNG ‐related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings;American Journal of Medical Genetics Part A;2019-03-14

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