c.3G>A mutation in the CRYAB gene that causes fatal infantile hypertonic myofibrillar myopathy in the Chinese population.
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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… read more here.
Keywords: myofibrillar myopathy; mutation cryab; infantile hypertonic; cryab gene ... See more keywords