What causes centronuclear myopathy 3 (CNM3)?

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

CNM3

CNM3 is caused by mutations in myogenic factor 6 (MYF6). MYF6 appears to be involved in terminal differentiation of myotubes. One family is reported with mild proximal weakness, muscle cramps and elevated CK in the proband. The father also harbored a mutation in dystrophin gene typically causing a mild to moderate phenotype, but had a severe phenotype, presumably due to modification by the MYF6 mutation. [42]


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