Congenital myopathy caused by pathogenic mutations in MYPN that lead to a wide spectrum of phenotypes. Patients with mutations in this gene often experience muscle weakness, facial weakness, and sometimes cardiac and respiratory issues. Histological findings on skeletal muscle biopsy are variable with nemaline bodies and cap-like lesions.
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nemaline myopathy 5
MONDO:0011539
severe congenital nemaline myopathy
MONDO:0015735
typical nemaline myopathy
MONDO:0015737
childhood-onset nemaline myopathy
MONDO:0015738
adult-onset nemaline myopathy
MONDO:0015739
nemaline myopathy 5B, autosomal recessive, childhood-onset
MONDO:0957281