congenital myopathy with internal nuclei and atypical cores
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.
MONDO:0018947
centronuclear myopathy
is_a
CNM4
exact
centronuclear myopathy type 4
exact
myopathy, centronuclear, 4
related
myopathy, centronuclear, type 4
exact