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COLQ-mutant Congenital Myasthenic Syndrome with Microcephaly: A Unique Case with Literature Review
Congenital Myasthenic Syndrome (CMS) is a group of inherited neuromuscular junction disorders caused by defects in several genes. Clinical features include delayed motor milestones, recurrent respiratory illnesses and variable fatigable weakness. The central nervous system involvement is typically n...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
De Gruyter Open
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518714/ https://www.ncbi.nlm.nih.gov/pubmed/28744372 http://dx.doi.org/10.1515/tnsci-2017-0011 |
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author | Al-Muhaizea, Mohammad A. Al-Mobarak, Sulaiman Bazee |
author_facet | Al-Muhaizea, Mohammad A. Al-Mobarak, Sulaiman Bazee |
author_sort | Al-Muhaizea, Mohammad A. |
collection | PubMed |
description | Congenital Myasthenic Syndrome (CMS) is a group of inherited neuromuscular junction disorders caused by defects in several genes. Clinical features include delayed motor milestones, recurrent respiratory illnesses and variable fatigable weakness. The central nervous system involvement is typically not part of the CMS. We report here a Saudi girl with genetically proven Collagen Like Tail Subunit Of Asymmetric Acetylcholinesterase (COLQ) mutation type CMS who has global developmental delay, microcephaly and respiratory failure. We have reviewed the literature regarding COLQ-type CMS and to the best of our knowledge this is the first ever reported association of congenital myasthenia syndrome with microcephaly. |
format | Online Article Text |
id | pubmed-5518714 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | De Gruyter Open |
record_format | MEDLINE/PubMed |
spelling | pubmed-55187142017-07-25 COLQ-mutant Congenital Myasthenic Syndrome with Microcephaly: A Unique Case with Literature Review Al-Muhaizea, Mohammad A. Al-Mobarak, Sulaiman Bazee Transl Neurosci Regular Articles Congenital Myasthenic Syndrome (CMS) is a group of inherited neuromuscular junction disorders caused by defects in several genes. Clinical features include delayed motor milestones, recurrent respiratory illnesses and variable fatigable weakness. The central nervous system involvement is typically not part of the CMS. We report here a Saudi girl with genetically proven Collagen Like Tail Subunit Of Asymmetric Acetylcholinesterase (COLQ) mutation type CMS who has global developmental delay, microcephaly and respiratory failure. We have reviewed the literature regarding COLQ-type CMS and to the best of our knowledge this is the first ever reported association of congenital myasthenia syndrome with microcephaly. De Gruyter Open 2017-07-20 /pmc/articles/PMC5518714/ /pubmed/28744372 http://dx.doi.org/10.1515/tnsci-2017-0011 Text en © 2017 Mohammad A. Al-Muhaizea, Sulaiman Bazee Al-Mobarak http://creativecommons.org/licenses/by-nc-nd/3.0 This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License. |
spellingShingle | Regular Articles Al-Muhaizea, Mohammad A. Al-Mobarak, Sulaiman Bazee COLQ-mutant Congenital Myasthenic Syndrome with Microcephaly: A Unique Case with Literature Review |
title | COLQ-mutant Congenital Myasthenic Syndrome with Microcephaly: A Unique Case with Literature Review |
title_full | COLQ-mutant Congenital Myasthenic Syndrome with Microcephaly: A Unique Case with Literature Review |
title_fullStr | COLQ-mutant Congenital Myasthenic Syndrome with Microcephaly: A Unique Case with Literature Review |
title_full_unstemmed | COLQ-mutant Congenital Myasthenic Syndrome with Microcephaly: A Unique Case with Literature Review |
title_short | COLQ-mutant Congenital Myasthenic Syndrome with Microcephaly: A Unique Case with Literature Review |
title_sort | colq-mutant congenital myasthenic syndrome with microcephaly: a unique case with literature review |
topic | Regular Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518714/ https://www.ncbi.nlm.nih.gov/pubmed/28744372 http://dx.doi.org/10.1515/tnsci-2017-0011 |
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