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Published in 2021 at "Journal of integrative neuroscience"
DOI: 10.31083/j.jin.2021.01.267
Abstract: 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…
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Keywords:
myofibrillar myopathy;
mutation cryab;
infantile hypertonic;
cryab gene ... See more keywords