A Rare Case of Severe Congenital RYR1-Associated Myopathy
Congenital myopathies are a group of rare inherited diseases, defined by hypotonia and muscle weakness. We report clinical and genetic characteristics of a male preterm newborn, whose phenotype was characterized by severe hypotonia and hyporeactivity, serious respiratory distress syndrome that requi...
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Main Authors: | , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Wiley
2018-01-01
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Series: | Case Reports in Genetics |
Online Access: | http://dx.doi.org/10.1155/2018/6184185 |
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