Nemaline myopathy
Engelsk navn: Nemaline myopathy
Engelske synonym: NEM,NM,Nemaline rod myopathy
Definisjon
Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy.
Fra Orphanet
ORPHA: 607
Klassifiseringsnivå: Group of disorders
ICD-10: