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Atypical nemaline myopathy with temporomandibular ankylosis

From the Departments of Pathology (Dr. Powers), Neurology (Dr. Young), Oral Surgery (Dr. Bass), and Orthopedic Surgery (Dr. Reed), Medical University of South Carolina, Charleston, SC.

A young girl who initially presented with jaw hypomobility at age 4 years subsequently developed signs of a slowly progressive myopathy. Rods were found in all sampled muscles, and were associated with fibrous contractures in the temporomandibular joint muscles. Rods in fibers undergoing necrosis displayed a pattern of degradation that was almost identical to the pattern induced by calcium-activated neutral protease in vitro. It appears that this patient had nemaline myopathy, atypical in both clinical presentation and pathologic lesions.

Address correspondence and reprint requests to Dr. Powers, Associate Professor of Pathology (Neuropathology), Medical University of South Carolina, 171 Ashley Avenue, Charleston, SC 29403.

Accepted for publication November 30, 1979.