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NEUROLOGY 1978;28:1135
© 1978 American Academy of Neurology

Familial neuromuscular disease with type 1 fiber hypoplasia, tubular aggregates, cardiomyopathy, and myasthenic features

Bruce H. Dobkin, M.D. and M. Anthony Verity, M.D.

Departments of Neurology (Dr Dobkin) and Neuropathology [Dr. Verity]. The Neuropsychiatric Institute, University of California at Los Angeles.

Three sisters had autosomal recessive inheritance of a cardiomyopathy, and nonprogressive proximal muscle weakness and lordosis that began in childhood. Small type 1 fibers and tubular aggregates in both fiber types were found on muscle biopsy. In addition, myasthenic features were characterized by fatigability with moderate exercise, decremental response to repetitive nerve stimulation, and improved function with anticholinesterase drug therapy.

Reprint requests should be addressed to Dr. Dobkin, 323 No. Prairle Avenue, Inglewood, CA 90301.

Presented in part at the twenty-ninth meeting of the American Academy of Neurology, Atlanta, Georgia, April 27, 1977.

Accepted for publication November 21, 1977.




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