Nemaline (rod) myopathy: a possible cause of rapidly fatal infantile hypotonia
Gillies, C.; Raye, J.; Vasan, U.; Hart, W.E.; Goldblatt, P.J.
Archives of Pathology and Laboratory Medicine 103(1): 1-5
1979
ISSN/ISBN: 0003-9985 PMID: 581546 Document Number: 153687
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.