Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1
Background A newly defined congenital myasthenic syndrome (CMS) caused by DPAGT1 mutations has recently been reported. While many other CMSassociated proteins have discrete roles localised to the neuromuscular junction, DPAGT1 is ubiquitously expressed, modifying many proteins, and as such is an une...
| Main Authors: | , , , , , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
2013
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| _version_ | 1826263999563431936 |
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| author | Finlayson, S Palace, J Belaya, K Walls, T Norwood, F Burke, G Holton, J Pascual-Pascual, S Cossins, J Beeson, D |
| author_facet | Finlayson, S Palace, J Belaya, K Walls, T Norwood, F Burke, G Holton, J Pascual-Pascual, S Cossins, J Beeson, D |
| author_sort | Finlayson, S |
| collection | OXFORD |
| description | Background A newly defined congenital myasthenic syndrome (CMS) caused by DPAGT1 mutations has recently been reported. While many other CMSassociated proteins have discrete roles localised to the neuromuscular junction, DPAGT1 is ubiquitously expressed, modifying many proteins, and as such is an unexpected cause of isolated neuromuscular involvement. Methods We present detailed clinical characteristics of five patients with CMS caused by DPAGT1 mutations. Results Patients have prominent limb girdle weakness and minimal craniobulbar symptoms. Tubular aggregates on muscle biopsy are characteristic but may not be apparent on early biopsies. Typical myasthenic features such as pyridostigmine and 3, 4- diaminopyridine responsiveness, and decrement on repetitive nerve stimulation are present. Conclusions These patients mimic myopathic disorders and are likely to be under-diagnosed. The descriptions here should facilitate recognition of this disorder. In particular minimal craniobulbar involvement and tubular aggregates on muscle biopsy help to distinguish DPAGT1 CMS from the majority of other forms of CMS. Patients with DPAGT1 CMS share similar clinical features with patients who have CMS caused by mutations in GFPT1, another recently identified CMS subtype. |
| first_indexed | 2024-03-06T20:00:48Z |
| format | Journal article |
| id | oxford-uuid:27396840-81a2-4def-be2d-dad7fa4ec90b |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T20:00:48Z |
| publishDate | 2013 |
| record_format | dspace |
| spelling | oxford-uuid:27396840-81a2-4def-be2d-dad7fa4ec90b2022-03-26T12:05:40ZClinical features of congenital myasthenic syndrome due to mutations in DPAGT1Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:27396840-81a2-4def-be2d-dad7fa4ec90bEnglishSymplectic Elements at Oxford2013Finlayson, SPalace, JBelaya, KWalls, TNorwood, FBurke, GHolton, JPascual-Pascual, SCossins, JBeeson, DBackground A newly defined congenital myasthenic syndrome (CMS) caused by DPAGT1 mutations has recently been reported. While many other CMSassociated proteins have discrete roles localised to the neuromuscular junction, DPAGT1 is ubiquitously expressed, modifying many proteins, and as such is an unexpected cause of isolated neuromuscular involvement. Methods We present detailed clinical characteristics of five patients with CMS caused by DPAGT1 mutations. Results Patients have prominent limb girdle weakness and minimal craniobulbar symptoms. Tubular aggregates on muscle biopsy are characteristic but may not be apparent on early biopsies. Typical myasthenic features such as pyridostigmine and 3, 4- diaminopyridine responsiveness, and decrement on repetitive nerve stimulation are present. Conclusions These patients mimic myopathic disorders and are likely to be under-diagnosed. The descriptions here should facilitate recognition of this disorder. In particular minimal craniobulbar involvement and tubular aggregates on muscle biopsy help to distinguish DPAGT1 CMS from the majority of other forms of CMS. Patients with DPAGT1 CMS share similar clinical features with patients who have CMS caused by mutations in GFPT1, another recently identified CMS subtype. |
| spellingShingle | Finlayson, S Palace, J Belaya, K Walls, T Norwood, F Burke, G Holton, J Pascual-Pascual, S Cossins, J Beeson, D Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1 |
| title | Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1 |
| title_full | Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1 |
| title_fullStr | Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1 |
| title_full_unstemmed | Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1 |
| title_short | Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1 |
| title_sort | clinical features of congenital myasthenic syndrome due to mutations in dpagt1 |
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