JAMES W. LEDWITH; ROBERT J. WHIPPLE
Myotonia dystrophica is a familial, progressive myopathy associated with degenerative changes in other tissues. These include premature baldness, colloid goiter with a low basal metabolic rate, distinctive presenile cataracts, and testicular atrophy. Eventually myotonia develops, then progressive atrophy and weakness in selected muscle groups in the face, neck, and extremities. When the trait is fully expressed in a male, the testicular pathology is remarkably similar to that described in Klinefelter's syndrome.1, 2
Since the discovery by Barr and his associates3 that genetic sex can be determined by the presence or absence of a specific chromatin mass in the nuclei of
LEDWITH JW, WHIPPLE RJ. MYOTONIA DYSTROPHICA: A CASE REPORT WITH SEX CHROMATIN STUDIES1. Ann Intern Med. ;54:113–121. doi: 10.7326/0003-4819-54-1-113
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Published: Ann Intern Med. 1961;54(1):113-121.
Hospital Medicine, Infectious Disease, Lupus Erythematosus, Rheumatology.
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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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