What causes centronuclear myopathy 4 (CNM4)?

Updated: Mar 11, 2019
  • Author: Matthew Harmelink, MD; Chief Editor: Amy Kao, MD  more...
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CNM4 is caused by mutations in the coiled-coil domain containing protein 78 (CCDC78).  CCDC78 is expressed in skeletal muscle, enriched in the perinuclear region and triad, and found in intracellular aggregates in the affected patient’s muscle. Muscle biopsy showed a high proportion of central nuclei, type-1 fiber predominance, desmin positive aggregates, and core-like areas.

This subtype is described in one family. There was neonatal hypotonia, distal more than proximal weakness, excessive fatigue, myalgias, mild to moderate motor impairment with preserve ambulation, and mild cognitive involvement. [43]

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