Divergent Phenotypes with Same CHRNE Mutation in Two Siblings with Congenital Myasthenic Syndrome
Background: Congenital myasthenic syndrome is a rare inherited neuromuscular disorder resulting in abnormal weakness and fatigue on exertion with onset at or shortly after birth or in early childhood. Clinical Description: A 2-year-old boy presented to us with respiratory failure, having a history o...
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| Main Authors: | , , , |
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| Format: | Book |
| Published: |
Wolters Kluwer Medknow Publications,
2024-05-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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Internet
Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
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| Copy 1 | Available |