autosomal dominant centronuclear myopathy
An inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0002921
congenital structural myopathy
is_a
MONDO:0018947
centronuclear myopathy
is_a
AD-CNM
exact
CNM1
exact
CNM3
related
DNM2-related centronuclear myopathy
related
autosomal dominant centronuclear myopathy
exact
autosomal dominant centronuclear myopathy caused by mutation in MYF6
exact
centronuclear myopathy 1
exact
centronuclear myopathy, autosomal dominant
exact
centronuclear myopathy, autosomal, modifier of
exact
myopathy, centronuclear, 1
exact
myopathy, centronuclear, 3
exact
myopathy, centronuclear, autosomal dominant
exact
myopathy, centronuclear, type 1
exact
myopathy, centronuclear, type 3
exact
myotubular myopathy, autosomal dominant
exact