Article
Familial cardioneuromyopathy with hyaline masses and nemaline rods: a novel phenotype.
Annals of neurology - 1 Feb 2002
Selcen Duygu, Krueger Bruce R, Engel Andrew G
Abstract excerpt
Two siblings (patients 1 and 2) had adult-onset muscle weakness that was greater distally than proximally, as well as respiratory insufficiency, cardiomyopathy, and cervical spine anomalies. Electromyography studies indicated myopathy and findings consistent with neuropathy in both. In the deltoid muscle of patient 1 and the anterior tibial muscle of patient 2, myriad type 1 fibers harbored large, irregularly...
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