A Korean Case of Neonatal Nemaline Myopathy Carrying KLHL40 Mutations Diagnosed Using Next Generation Sequencing
Nemaline myopathy is a genetically heterogeneous neuromuscular disorder and one of the most common congenital myopathies. The clinical manifestations usually vary depending on the age of onset. Neonatal nemaline myopathy has the worst prognosis, primarily due to respiratory failure. Several genes as...
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| Main Authors: | , , , |
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| Format: | Book |
| Published: |
Korean Society of Neonatology,
2021-05-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |