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...
| Main Authors: | , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
2013
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| _version_ | 1797050940996452352 |
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| author | Basiri, K Belaya, K Liu, W Maxwell, S Sedghi, M Beeson, D |
| author_facet | Basiri, K Belaya, K Liu, W Maxwell, S Sedghi, M Beeson, D |
| author_sort | Basiri, K |
| collection | OXFORD |
| 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. |
| first_indexed | 2024-03-06T18:12:40Z |
| format | Journal article |
| id | oxford-uuid:038c63e3-6e59-4051-9522-5c22f30de9d8 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T18:12:40Z |
| publishDate | 2013 |
| record_format | dspace |
| spelling | oxford-uuid:038c63e3-6e59-4051-9522-5c22f30de9d82022-03-26T08:46:54ZClinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:038c63e3-6e59-4051-9522-5c22f30de9d8EnglishSymplectic Elements at Oxford2013Basiri, KBelaya, KLiu, WMaxwell, SSedghi, MBeeson, DMutations 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. |
| spellingShingle | Basiri, K Belaya, K Liu, W Maxwell, S Sedghi, M Beeson, D 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 |
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