What causes nemaline myopathy 10 (NEM10)?

Updated: Mar 11, 2019
  • Author: Matthew Harmelink, MD; Chief Editor: Amy Kao, MD  more...
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Answer

NEM10  is due to mutations in leiomodin-3 (LMOD3) gene in a recessive fashion. Like many of the other subtypes, there is a severe phenotype with respiratory insufficiency, severe weakness, and feeding difficulties, but no cardiac abnormalities. In this subtype, death during the neonatal period has been described. [26]  However, a milder subtype has also been described with marked facial weakness but retained ambulation in 3 of 4 patients. [27]


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