| Glycogen storage disease type V (Mc Ardle's disease): A report on three cases. | |
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MedLine Citation:
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PMID: 22234204 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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McArdle's disease (myophosphorylase deficiency), an uncommon autosomal recessive metabolic disorder, is characterized clinically by exercise intolerance beginning in childhood, myalgia, cramps, exercise-induced rhabdomyolysis, "second wind" phenomenon, elevated Creatine Kinase (CK) levels at rest, and previous episodes of raised CK levels following exercise. Several mutations in the PYGM gene and geographic variations have been described. We report three biopsy confirmed cases of McArdle's disease. |
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Authors:
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Naveen Krishnamoorthy; Vani Santosh; T C Yasha; Anita Mahadevan; S K Shankar; Dilip Jethwani; A B Taly; K Bhanu; N Gayathri |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Neurology India Volume: 59 ISSN: 0028-3886 ISO Abbreviation: Neurol India Publication Date: 2011 Nov-Dec |
Date Detail:
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Created Date: 2012-01-11 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0042005 Medline TA: Neurol India Country: India |
Other Details:
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Languages: eng Pagination: 884-6 Citation Subset: IM |
Affiliation:
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Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore, India. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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