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The well-informed appraisal of a patient with neuromuscular disease now requires that a muscle biopsy be done and the specimen studied histochemically. The great amount of information gathered thereby is truly amazing and has shown unequivocally that not all that waddles is dystrophy.
Many waddling patients are now being reclassified as having mitochondrial myopathies, rod disease, central core, Type I hypotrophy, reducing body myopathy, and a host of other labels unknown to medical science 10 years ago. Correct classification is, of course, a tedious but necessary prelude to correct prognostication, intelligent genetic counseling, and meaningful trial of experimental therapeutic agents.
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Muscle Biopsy: A Modem Approach.. Ann Intern Med. 1974;81:139. doi: 10.7326/0003-4819-81-1-139_1
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Published: Ann Intern Med. 1974;81(1):139.
Copyright © 2017 American College of Physicians. All Rights Reserved.
Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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