HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Full Text (PDF) Correspondence: Submit a response Alert me when this article is cited Alert me when Correspondence are posted Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Miller, R. G. Articles by Mall, J. C. Search for Related Content PubMed PubMed Citation Articles by Miller, R. G. Articles by Mall, J. C.

Emery-Dreifuss muscular dystrophy with autosomal dominant transmission

Departments of Neurology (Dr. Miller and Mr. Mellenthin), Cardiology (Dr. Francoz), and Radiology (Dr. Mall), Children's Hospital of San Francisco: and the Departments of Neurology (Drs. Layzer and Miller) and Genetics (Dr. Golabi), University of California at San Francisco, San Francisco, CA.

A woman with early-onset, slowly progressive, humeroperoneal muscle weakness had marked restriction of neck flexion with contracture at the elbows. She developed exertional dyspnea at age 25, atrial fibrillation with slow ventricular rate was discovered, and a cardiac pacemaker was implanted. Her father had a similar disorder. There is at least one other report of autosomal dominant transmission of this clinical picture, which had previously only been reported as Emery-Dreifuss muscular dystrophy with X-linked recessive inheritance. Thus, more than one mode of inheritance is possible for this unusual and distinctive form of muscular dystrophy.

Address correspondence and reprint requests to Dr. Miller, Department of Neurology (OPR 613), Children's Hospiksl of San Francisco, 3700 California Street, San Francisco, CA 94119.

Accepted for publication November 30, 1984.

This article has been cited by other articles:

				J. L. V. Broers, F. C. S. Ramaekers, G. Bonne, R. B. Yaou, and C. J. Hutchison Nuclear lamins: laminopathies and their role in premature ageing. Physiol Rev, July 1, 2006; 86(3): 967 - 1008. [Abstract] [Full Text] [PDF]

				M. Kanadasi, M. Demirtas, R. Guzel, M. San, and I. Tuncer Cardiomyopathy and Atrioventricular Block in Emery-Dreifuss Muscular Dystrophy: A Case Report Angiology, January 1, 2002; 53(1): 109 - 112. [Abstract] [PDF]

				K. J. Felice, R. C. Schwartz, C. A. Brown, C. R. Leicher, and M. L. Grunnet Autosomal dominant Emery-Dreifuss dystrophy due to mutations in rod domain of the lamin A/C gene Neurology, July 25, 2000; 55(2): 275 - 280. [Abstract] [Full Text] [PDF]

				E. Mercuri, A. Y. Manzur, H. Jungbluth, G. Bonne, A. Muchir, C. Sewry, K. Schwartz, and F. Muntoni Early and severe presentation of autosomal dominant Emery-Dreifuss muscular dystrophy (EMD2) Neurology, April 25, 2000; 54(8): 1704 - 1705. [Full Text] [PDF]

				C Ostlund, J Ellenberg, E Hallberg, J Lippincott-Schwartz, and H. Worman Intracellular trafficking of emerin, the Emery-Dreifuss muscular dystrophy protein J. Cell Sci., January 6, 1999; 112(11): 1709 - 1719. [Abstract] [PDF]

				J. E. Riggs, J. T. Romano, S. S. Schochet Jr, and L. Gutmann Humeropelviperoneal Muscular Dystrophy With Contractures: A Genetically Heterogeneous Phenotype Arch Neurol, April 1, 1988; 45(4): 374 - 375. [Abstract] [PDF]