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NEUROLOGY 2005;64:1638-1640
© 2005 American Academy of Neurology
Brief Communications

Myopathy with skeletal asymmetry and hemidiaphragm elevation is caused by myotubularin mutations

P. M. Grogan, MD, S. M. Tanner, PhD, K. H. Ørstavik, MD, PhD, G.P.S. Knudsen, MSc, D. S. Saperstein, MD, H. Vogel, MD, R. J. Barohn, MD, L. L. Herbelin, DS, A. L. McVey, MD and J. S. Katz, MD

From the Departments of Neurology (Drs. Grogan and Katz) and Neuropathology (Dr. Vogel), Stanford University Medical Center, Palo Alto; Palo Alto Veterans Affairs Health Care System (Drs. Grogan and Katz), CA; Human Cancer Genetics Program (Dr. Tanner), The Ohio State University, Columbus; Department of Medical Genetics (Dr. Ørstavik), National Hospital, Oslo; Faculty Division Rikshospitalet (Dr. Ørstavik and G.P.S. Knudsen), University of Oslo, Norway; and Department of Neurology (Drs. Saperstein, Barohn, Herbelin, and McVey), University of Kansas Medical Center, Kansas City.

Address correspondence and reprint requests to Dr. Jonathan Katz, Palo Alto Veteran's Administration Hospital, Neurology Department, 3801 Miranda Avenue, Palo Alto, CA 94304; e-mail: jskatz{at}stanford.edu

The authors report two families with a myopathy phenotype affecting only women, marked by asymmetric weakness, skeletal asymmetry, and an elevated hemidiaphragm. One family had a mutation in a stop codon in exon 9 of the myotubularin gene, and the other had a splice site mutation in exon 13. Both families had manifesting and nonmanifesting carriers. Skewed X-inactivation appeared to explain the clinical manifestations in only one of the two families.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the May 10 issue to find the title link for this article.

Received June 25, 2004. Accepted in final form January 24, 2005.






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