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Title
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Recurrent post-infectious rhabdomyolysis in muscle CPT-II deficiency caused by a novel missense mutation
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Author
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Abstract
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| A case is reported of a 39-year-old woman with recurrent rhabdomyolysis caused by minor S. pyogenes tonsillitis. She was diagnosed with the adult form of CPT-II deficiency. Molecular analysis revealed compound heterozygosity for a common c.338C > T (p.Ser113Leu) mutation in exon 3 and a most likely pathogenic c.200C > G (p.Ala67Gly) variant in exon 2. Here we discuss the case, along with a clinical review of rhabdomyolysis and adult CPT-II deficiency. When a patient presents with recurrent episodes of rhabdo myolysis, especially when provoked by minor causes, a thorough work-up for a possible metabolic myopathy is mandatory. |
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Language
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English
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Source (journal)
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Acta neurologica Belgica. - Bruxelles, 1970, currens
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Publication
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Bruxelles
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Acta Medica Belgica
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2008
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ISSN
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0300-9009
[print]
2240-2993
[online]
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Volume/pages
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108
:4
(2008)
, p. 155-160
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ISI
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000263358900008
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