Congenital myopathy with internal nuclei and atypical cores
Congenital myopathy with internal nuclei and atypical cores
Definition
Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients.
Also known as centronuclear myopathy type 4, CNM4, myopathy, centronuclear, type 4 — per MONDO