Morphologic and morphometric analysis of muscle in X-linked myotubular myopathy

MM Silver, JJ Gilbert, S Stewart, D Brabyn, J Jung - Human pathology, 1986 - Elsevier
The X-linked form of myotubular myopathy is highly lethal in neonates. Several autopsy-
derived muscles from two probands of a new kindred who survived for 100 days because of
intensive supportive care were analyzed by light microscopy, morphometry, enzyme
histochemistry, and electron microscopy. The results were compared with a similar analysis
of muscle from control fetal and neonatal subjects. The findings, in addition to the
characteristic centronucleated hypotrophic myofibers, included widespread myofiber …