MYH7-related skeletal myopathy
A rare autosomal dominant distal myopathy characterized by preferential weakness of the great toe, ankle dorsiflexor, finger extensor and neck flexor. Progression is slow with variations in age of onset, severity, weakness, cardiac, and respiratory involvement.
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0016195
neuromuscular disease caused by qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
is_a
MONDO:0018949
distal myopathy
is_a
MONDO:0019952
congenital myopathy
is_a
Laing distal myopathy
exact
MPD1
exact
MYH7-related skeletal myopathy
exact
distal myopathy type 1
exact
myopathy distal, type 1
exact
myopathy, distal, 1
exact
myopathy, distal, early-onset, autosomal dominant
exact
myopathy, distal, type 1
exact
myopathy, late distal hereditary
exact
myosin storage myopathy
related
SPCC645.05c SPAC4A8.05c