Nemaline Myopathy With Associated Cardiomyopathy

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Abstract
• We describe the clinical features and autopsy findings of an adult patient who had nemaline myopathy and an associated progressive cardiomyopathy. The spinal cord and the results of morphometric analysis of multiple peripheral nerves were normal. There was probable intrafusal fiber involvement, in addition to the typical histopathologic features of extrafusal fibers. Cardiac dysfunction was a prominent clinical and autopsy feature, but it has been infrequently recognized in this entity. Our findings suggest that there is a poor correlation between clinical and pathologic features in this disorder, and they support the need for careful cardiac evaluation of affected patients. Furthermore, the constellation of features favors a myopathic basis for the disease, in contradistinction to some previously expressed views.