myopathy caused by variation in POMT1
Any myopathy in which the cause of the disease is a variation in the POMT1 gene.
MONDO:0005336
myopathy
is_a
MONDO:0016155
qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
is_a
MONDO:0700223
hereditary skeletal muscle disorder
is_a
POMT1 myopathy
exact
POMT1-related myopathy
exact
myopathy caused by mutation in POMT1
exact
SPBC16C6.09