multiminicore myopathy
A hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy.
MONDO:0016197
neuromuscular disease caused by qualitative or quantitative defects of selenoprotein N1
is_a
MONDO:0100545
hereditary neurological disease
is_a
MmD
exact
multicore disease
exact
multicore myopathy
exact
multiminicore disease
exact