c.3G>A mutation in the CRYAB gene that causes fatal infantile hypertonic myofibrillar myopathy in the Chinese population
Infantile hypertonic myofibrillar myopathy is characterized by the rapid development of rigid muscles and respiratory insufficiency soon after birth, with very high mortality. It is extremely rare, and only a few cases having been reported until now. Here we report four Chinese infants with fatal...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
IMR Press
2021-03-01
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| Series: | Journal of Integrative Neuroscience |
| Subjects: | |
| Online Access: | https://jin.imrpress.com/fileup/1757-448X/PDF/1616655640227-1043633815.pdf |