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 Gospe, S. M. Articles by Fischbeck, K. H. Search for Related Content PubMed PubMed Citation Articles by Gospe, S. M., Jr. Articles by Fischbeck, K. H.

Familial X-linked myalgia and cramps

A nonprogressive myopathy associated with a deletion in the dystrophin gene

Departments of Neurology and Pediatrics, School of Medicine, University of California, Davis, CA (Dr. Gospe)
Department of Neurology, Albany Medical College, Albany, NY (Drs. Lazaro and Lava)
Department of Human Genetics, University of Leiden, Leiden, The Netherlands (P.M. Grootscholten)
Department of Neurology, Hospital of the University of Pennsylvania, Philadelphia, PA. (M.O. Scott and Dr. Fischbeck)

We report a family with an X-linked recessive disorder characterized by muscle cramps and myalgia. Nine affected male family members had high resting serum levels of creatine kinase, and well-developed musculature with calf hypertrophy but no evidence of muscular weakness. Symptoms began in childhood and did not progress. Electromyographic findings were consistent with myopathy while muscle biopsies showed nonspecific myopathic changes without evidence of storage of glycogen or lipid. Analysis of DNA revealed a deletion in the 1st third of the dystrophin gene. Western blot analysis revealed that dystrophin was smaller than that in normal samples, with no reduction in the amount of the protein present. This disorder represents a new clinical phenotype associated with a deletion in the dystrophin gene. This deletion affects a portion of the dystrophin molecule that clinically does not appear to significantly alter its function. Other patients with deletions in this region may have truncated dystrophin without clinical signs of progressive muscle disease.

Address correspondence and reprint requests to Dr. Goape, Department of Neurology, University of California, Davis Medical Center, 2315 Stockton Boulevard, Sacramento, CA 95817.

Received August 1, 1988. Accepted for publication in final form June 15, 1989.

This article has been cited by other articles:

				J. Sebat, B. Lakshmi, D. Malhotra, J. Troge, C. Lese-Martin, T. Walsh, B. Yamrom, S. Yoon, A. Krasnitz, J. Kendall, et al. Strong Association of De Novo Copy Number Mutations with Autism Science, April 20, 2007; 316(5823): 445 - 449. [Abstract] [Full Text] [PDF]

				M. Filosto, P. Tonin, G. Vattemi, L. Bertolasi, A. Simonati, N. Rizzuto, and G. Tomelleri The role of muscle biopsy in investigating isolated muscle pain Neurology, January 16, 2007; 68(3): 181 - 186. [Abstract] [Full Text] [PDF]

				M B Sanchez-Arjona, J J Rodriguez-Uranga, M Giles-Lima, R Fernandez-Garcia, I Chinchon-Lara, G Antinolo, and J Bautista-Lorite Spanish family with myalgia and cramps syndrome J. Neurol. Neurosurg. Psychiatry, February 1, 2005; 76(2): 286 - 289. [Abstract] [Full Text] [PDF]

				M. Saito, N. J. Olby, L. Obledo, and J. L. Gookin Muscle Cramps in Two Standard Poodles With Hypoadrenocorticism J. Am. Anim. Hosp. Assoc., September 1, 2002; 38(5): 437 - 443. [Abstract] [Full Text] [PDF]

				F. J. Samaha and J. G. Quinlan Topical Review: Dystrophinopathies: Clarification and Complication J Child Neurol, January 1, 1996; 11(1): 13 - 20. [Abstract] [PDF]

				F. J. Samaha and J. G. Quinlan Myalgia and Cramps: Dystrophinopathy With Wide-Ranging Laboratory Findings J Child Neurol, January 1, 1996; 11(1): 21 - 24. [Abstract] [PDF]

				J. R. Mendell, Z. Sahenk, and T. W. Prior The Childhood Muscular Dystrophies: Diseases Sharing a Common Pathogenesis of Membrane Instability J Child Neurol, March 1, 1995; 10(2): 150 - 159. [Abstract] [PDF]

				D. H. Gutmann and F. S. Collins Neurofibromatosis Type 1: Beyond Positional Cloning Arch Neurol, November 1, 1993; 50(11): 1185 - 1193. [Abstract] [PDF]

				E. P. Hoffman and J. Wang Duchenne-Becker Muscular Dystrophy and the Nondystrophic Myotonias: Paradigms for Loss of Function and Change of Function of Gene Products Arch Neurol, November 1, 1993; 50(11): 1227 - 1237. [Abstract] [PDF]

				F. Muntoni, M. Cau, A. Ganau, R. Congiu, G. Arvedi, A. Mateddu, M. G. Marrosu, C. Cianchetti, G. Realdi, A. Cao, et al. Deletion of the Dystrophin Muscle-Promoter Region Associated with X-Linked Dilated Cardiomyopathy N. Engl. J. Med., September 23, 1993; 329(13): 921 - 925. [Full Text]