Nemaline (rod) myopathy: a possible cause of rapidly fatal infantile hypotonia.
Two infant siblings (male and female) manifested extreme hypotonia and flaccidity at birth and had a rapidly fatal course. In each, rod-like structures were demonstrated within a variety of skeletal muscles, and accumulations of thin filaments were seen in numerous muscle fibers. The possibility exists that this represents a severe and rapidly fatal form of nemaline myopathy that should be included in the differential diagnosis of infantile hypotonias.
D001706:Biopsy; D003594:Cytoplasmic Granules / Q000648:ultrastructure; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000473:pathology*; D008297:Male; D009123:Muscle Hypotonia / Q000209:etiology / Q000401:mortality / Q000473:pathology*; D009132:Muscles / Q000648:ultrastructure*; D009133:Muscular Atrophy / Q000473:pathology; D012127:Respiratory Distress Syndrome, Newborn / Q000473:pathology; D012508:Sarcolemma / Q000648:ultrastructure