typical nemaline myopathy
Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM) characterized by facial and skeletal muscle weakness and mild respiratory involvement.
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0016193
neuromuscular disease caused by qualitative or quantitative defects of alpha-actin
is_a
MONDO:0016194
neuromuscular disease caused by qualitative or quantitative defects of nebulin
is_a
MONDO:0017303
neuromuscular disease caused by qualitative or quantitative defects of tropomyosin
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MONDO:0018958
nemaline myopathy
is_a
MONDO:0100545
hereditary neurological disease
is_a
typical congenital nemaline myopathy
related
SPAC20G4.06c SPBC32H8.12c SPAC9G1.06c