Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes.
Rapsyn mutations in 16 unrelated patients with a congenital/hereditary myasthenic syndrome were identified, and a mutation (N88K) common to each of them was found. Two distinct phenotypes were noted: early and late onset. The former is frequently associated with arthrogryposis multiplex congenita an...
| Main Authors: | , , , , , , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
2003
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| _version_ | 1826281821936025600 |
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| author | Burke, G Cossins, J Maxwell, S Owens, G Vincent, A Robb, S Nicolle, M Hilton-Jones, D Newsom-Davis, J Palace, J Beeson, D |
| author_facet | Burke, G Cossins, J Maxwell, S Owens, G Vincent, A Robb, S Nicolle, M Hilton-Jones, D Newsom-Davis, J Palace, J Beeson, D |
| author_sort | Burke, G |
| collection | OXFORD |
| description | Rapsyn mutations in 16 unrelated patients with a congenital/hereditary myasthenic syndrome were identified, and a mutation (N88K) common to each of them was found. Two distinct phenotypes were noted: early and late onset. The former is frequently associated with arthrogryposis multiplex congenita and life-threatening crises. The late-onset phenotype developed in adolescence or adulthood and was initially mistaken for seronegative myasthenia gravis. Recognition of this late-onset phenotype should prevent inappropriate immunotherapy. |
| first_indexed | 2024-03-07T00:34:34Z |
| format | Journal article |
| id | oxford-uuid:80f43e4b-2687-4c12-848d-4b13319e2d5b |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T00:34:34Z |
| publishDate | 2003 |
| record_format | dspace |
| spelling | oxford-uuid:80f43e4b-2687-4c12-848d-4b13319e2d5b2022-03-26T21:26:57ZRapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:80f43e4b-2687-4c12-848d-4b13319e2d5bEnglishSymplectic Elements at Oxford2003Burke, GCossins, JMaxwell, SOwens, GVincent, ARobb, SNicolle, MHilton-Jones, DNewsom-Davis, JPalace, JBeeson, DRapsyn mutations in 16 unrelated patients with a congenital/hereditary myasthenic syndrome were identified, and a mutation (N88K) common to each of them was found. Two distinct phenotypes were noted: early and late onset. The former is frequently associated with arthrogryposis multiplex congenita and life-threatening crises. The late-onset phenotype developed in adolescence or adulthood and was initially mistaken for seronegative myasthenia gravis. Recognition of this late-onset phenotype should prevent inappropriate immunotherapy. |
| spellingShingle | Burke, G Cossins, J Maxwell, S Owens, G Vincent, A Robb, S Nicolle, M Hilton-Jones, D Newsom-Davis, J Palace, J Beeson, D Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes. |
| title | Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes. |
| title_full | Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes. |
| title_fullStr | Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes. |
| title_full_unstemmed | Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes. |
| title_short | Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes. |
| title_sort | rapsyn mutations in hereditary myasthenia distinct early and late onset phenotypes |
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