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Expedited Publication
October 1, 1989

Familial X‐linked myalgia and cramps
A nonprogressive myopathy associated with a deletion in the dystrophin gene

October 1989 issue
39 (10) 1277

Abstract

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.

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Information & Authors

Information

Published In

Neurology®
Volume 39Number 10October 1989
Pages: 1277
PubMed: 2677830

Publication History

Published online: October 1, 1989
Published in print: October 1989

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Authors

Affiliations & Disclosures

S. M. Gospe, Jr., MD, PhD
P. M. Grootscholten, BS
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)

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  2. Unusual Presentations of Dystrophinopathies in Childhood, Pediatrics, 141, Supplement_5, (S510-S514), (2018).https://doi.org/10.1542/peds.2017-2391
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  3. Novel noncontiguous duplications identified with a comprehensive mutation analysis in the DMD gene by DMD gene-targeted sequencing, Gene, 645, (113-118), (2018).https://doi.org/10.1016/j.gene.2017.12.037
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  5. Topical Review: Dystrophinopathies: Clarification and Complication, Journal of Child Neurology, 11, 1, (13-20), (2016).https://doi.org/10.1177/088307389601100103
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  8. Managing dystrophinopathic cardiomyopathy, Expert Opinion on Orphan Drugs, 4, 11, (1159-1178), (2016).https://doi.org/10.1080/21678707.2016.1234373
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  10. Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature, European Journal of Medical Genetics, 58, 6-7, (341-345), (2015).https://doi.org/10.1016/j.ejmg.2015.04.003
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