期刊
NEUROMUSCULAR DISORDERS
卷 23, 期 6, 页码 469-472出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2013.03.003
关键词
Congenital myasthenic syndrome; DPAGT1; Mutation; Clinical features
资金
- OXION: Ion channels and disease initiative
- Medical Research Council, UK [G0701521]
- Muscular Dystrophy Campaign
- Myasthenia Gravis Association
- Medical Research Council [G0701521] Funding Source: researchfish
- MRC [G0701521] Funding Source: UKRI
Mutations hi 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. (C) 2013 Elsevier WY. All rights reserved.
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