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 CMS-associated proteins have discrete roles localised to the neuromuscular junction, DPAGT1 is ubiquitously expressed, modifying many proteins, and as such is an u...
| Автори: | , , , , , , , , , |
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| Формат: | Journal article |
| Мова: | English |
| Опубліковано: |
2013
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