| Grandpa and I have dystrophinopathy?: approach to asymptomatic hyperCKemia. | |
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MedLine Citation:
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PMID: 16876015 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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This report describes three males from a single kinship, ages 7, 8, and 67 years with clinically asymptomatic dystrophinopathy. The index case was an 8-year-old male evaluated for asymptomatic but persistently elevated serum creatine kinase levels. Muscle biopsy demonstrated a mild myopathy, without necrotic fibers. Immunostaining for dystrophin revealed a slight reduction in sarcolemmal reactivity for the amino terminus of dystrophin. Dystrophin gene analysis revealed a deletion of exon 45 to exon 51. Genetic analysis identified two other affected males (age 7 years and 67 years), as well as four female carriers in the same family. The 7-year-old male had mildly increased creatine kinase levels with normal muscle strength. The 67-year-old grandfather had normal neuromuscular examination and serum creatine kinase levels. Asymptomatic dystrophinopathy in late adulthood is exceptionally rare, and highlights the importance of consideration of dystrophin mutation analysis in patients with hyperCKemia, even in the absence of muscle weakness. |
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Authors:
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Montri Saengpattrachai; Peter N Ray; Cynthia E Hawkins; Alan Berzen; Brenda L Banwell |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Pediatric neurology Volume: 35 ISSN: 0887-8994 ISO Abbreviation: Pediatr. Neurol. Publication Date: 2006 Aug |
Date Detail:
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Created Date: 2006-07-31 Completed Date: 2006-10-20 Revised Date: 2007-06-14 |
Medline Journal Info:
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Nlm Unique ID: 8508183 Medline TA: Pediatr Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 145-9 Citation Subset: IM |
Affiliation:
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Division Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Aged Child Creatine Kinase / blood* Dystrophin / genetics* Exons / genetics* Humans Male Pedigree |
| Chemical | |
Reg. No./Substance:
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0/DMD protein, human; 0/Dystrophin; EC 2.7.3.2/Creatine Kinase |
| Comments/Corrections | |
Comment In:
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Pediatr Neurol. 2007 Apr;36(4):277-8; author reply 278
[PMID:
17437917
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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