Congenital myasthenic syndrome caused by mutations in DPAGT.
Congenital myasthenic syndromes with prominent limb girdle involvement are an important differential diagnosis for congenital myopathies because of the therapeutic considerations. We present a case where accurate diagnosis was delayed for many years. Fluctuations of weakness were misinterpreted as e...
| Автори: | , , , , , |
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| Формат: | Journal article |
| Мова: | English |
| Опубліковано: |
2015
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