Familial X-linked myalgia and cramps: a nonprogressive myopathy associated with a deletion in the dystrophin gene
| Autor: | P. M. Grootscholten, M. O. Scott, Sidney M. Gospe, N. S. Lava, R. P. Lazaro, Kenneth H. Fischbeck |
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| Rok vydání: | 1989 |
| Předmět: |
musculoskeletal diseases
myalgia Adult Male medicine.medical_specialty X Chromosome Genetic Linkage Muscle Proteins Pain Dystrophin chemistry.chemical_compound Western blot Muscular Diseases Internal medicine Medicine Humans Myopathy Muscle Cramp biology Glycogen medicine.diagnostic_test business.industry Muscles DNA Dystrophin gene Mitochondria Muscle Pedigree Endocrinology chemistry Child Preschool biology.protein Creatine kinase Female Neurology (clinical) medicine.symptom Chromosome Deletion business Muscle cramp |
| Zdroj: | Scopus-Elsevier |
| ISSN: | 0028-3878 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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