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A dominantly inherited myopathy with excessive tubular aggregates

Department of Neurology, University of Wuerzburg (Drs. Rohkamm and Rickeri. and the Department of Neurology. University of Bonn (Drs. Boxler and Jerusalem), West Germany.

We studied a family in which seven individuals in three generations had slowly progressive weakness without atrophy, myalgia, cramps, or episodic weakness. Creatine kinase was normal, and EMG showed only slight "Inyopathic" changes. Neuromuscular transmission was undisturbed. Muscle biopsies were performed in three patients. About 60 to 90% of all fibers contained tubular aggregates. There was a marked variation in fiber size and a marked type I1 fiber atrophy. Biopsy of an asymptomatic family member was normal. The nature of the underlying disease was obscure.

Address correspondence and reprint request to DF. Ricker. Department of Neurology, Kopfklinikum, Josef-Srhnelder-Str. 11, D-8700 Wuerzburg, West Germany.

Accepted for publication July 1, 1982.

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