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Scapuloperoneal Muscular Atrophy With CardiopathyAn X-Linked Recessive Trait
Shiro Mawatari, MD;
Kameo Katayama, MD
Arch Neurol. 1973;28(1):55-59.
Abstract
In a family with spinal muscular atrophy, the distinctive clinical features were (1) juvenile onset; (2) scapulohumero-peroneal muscular atrophy and weakness; (3) cardiopathy with conduction defect; and (4) probable X-linked recessive inheritance. Marked limitation of the neck flexion due to shortness (or atrophy) of posterior nuchal muscles and shortness of the Achilles tendons were early manifestations. A similar but milder electrocardiographic abnormality was found in the mothers of the patients; female carriers may have a latent cardiopathy. The ECG abnormalities suggest a selective disorder of the conduction system. This seems to be a new clinical entity.
Author Affiliations
Fukuoka, Japan; Kitakyushu City, Japan
From the Department of Neurology, Neurological Institute, Faculty of Medicine, Kyushu University, Fukuoka, Japan (Dr. Mawatari), and Moji National Railroad Hospital, Moji-ku, Kitakyushu City, Japan (Dr. Katayama). Dr. Mawatari is now with the University of Pennsylvania School of Medicine, Philadelphia.
Footnotes
Accepted for publication July 17, 1972.
Reprint requests to Department of Neurology, 429 Johnson Pavilion, University of Pennsylvania School of Medicine, Philadelphia 19104 (Dr. Mawatari).
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