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Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1
Mutations in DPAGT1 are a newly recognised cause of congenital myasthenic syndrome. DPAGT1 encodes an early component of the N-linked glycosylation pathway. Initially mutations in DPAGT1 have been associated with the onset of the severe multisystem disorder – congenital disorder of glycosylation typ...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Pergamon Press
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3746154/ https://www.ncbi.nlm.nih.gov/pubmed/23591138 http://dx.doi.org/10.1016/j.nmd.2013.03.003 |
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author | Basiri, Keivan Belaya, Katsiaryna Liu, Wei Wei Maxwell, Susan Sedghi, Maryam Beeson, David |
author_facet | Basiri, Keivan Belaya, Katsiaryna Liu, Wei Wei Maxwell, Susan Sedghi, Maryam Beeson, David |
author_sort | Basiri, Keivan |
collection | PubMed |
description | Mutations in DPAGT1 are a newly recognised cause of congenital myasthenic syndrome. DPAGT1 encodes an early component of the N-linked glycosylation pathway. Initially mutations in DPAGT1 have been associated with the onset of the severe multisystem disorder – congenital disorder of glycosylation type 1J. However, recently it was established that certain mutations in this gene can cause symptoms restricted to muscle weakness resulting from defective neuromuscular transmission. We report four cases from a large Iranian pedigree with prominent limb-girdle weakness and minimal craniobulbar symptoms who harbour a novel mutation in DPAGT1, c.652C>T, p.Arg218Trp. This myasthenic syndrome may mimic myopathic disorders and is likely under-diagnosed. |
format | Online Article Text |
id | pubmed-3746154 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Pergamon Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-37461542013-08-19 Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1 Basiri, Keivan Belaya, Katsiaryna Liu, Wei Wei Maxwell, Susan Sedghi, Maryam Beeson, David Neuromuscul Disord Case Report Mutations in DPAGT1 are a newly recognised cause of congenital myasthenic syndrome. DPAGT1 encodes an early component of the N-linked glycosylation pathway. Initially mutations in DPAGT1 have been associated with the onset of the severe multisystem disorder – congenital disorder of glycosylation type 1J. However, recently it was established that certain mutations in this gene can cause symptoms restricted to muscle weakness resulting from defective neuromuscular transmission. We report four cases from a large Iranian pedigree with prominent limb-girdle weakness and minimal craniobulbar symptoms who harbour a novel mutation in DPAGT1, c.652C>T, p.Arg218Trp. This myasthenic syndrome may mimic myopathic disorders and is likely under-diagnosed. Pergamon Press 2013-06 /pmc/articles/PMC3746154/ /pubmed/23591138 http://dx.doi.org/10.1016/j.nmd.2013.03.003 Text en © 2013 Elsevier B.V. https://creativecommons.org/licenses/by/3.0/ Open Access under CC BY 3.0 (https://creativecommons.org/licenses/by/3.0/) license |
spellingShingle | Case Report Basiri, Keivan Belaya, Katsiaryna Liu, Wei Wei Maxwell, Susan Sedghi, Maryam Beeson, David Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1 |
title | Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1 |
title_full | Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1 |
title_fullStr | Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1 |
title_full_unstemmed | Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1 |
title_short | Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1 |
title_sort | clinical features in a large iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in dpagt1 |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3746154/ https://www.ncbi.nlm.nih.gov/pubmed/23591138 http://dx.doi.org/10.1016/j.nmd.2013.03.003 |
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