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dc.contributor.authorJantima Tanboonen_US
dc.contributor.authorOranee Sanmaneechaien_US
dc.contributor.authorSirirat Charuvanijen_US
dc.contributor.authorTumtip Sangruchien_US
dc.contributor.authorAngeles S. Galindo-Feriaen_US
dc.contributor.authorIngrid E. Lundbergen_US
dc.contributor.authorYuko Ohnukien_US
dc.contributor.authorTakashi Shiinaen_US
dc.contributor.authorShigeaki Suzukien_US
dc.contributor.authorIchizo Nishinoen_US
dc.contributor.otherTokai University School of Medicineen_US
dc.contributor.otherKeio University School of Medicineen_US
dc.contributor.otherNational Institute of Neuroscience, Kodairaen_US
dc.contributor.otherKarolinska University Hospitalen_US
dc.contributor.otherNational Center of Neurology and Psychiatry Kodairaen_US
dc.contributor.otherFaculty of Medicine, Siriraj Hospital, Mahidol Universityen_US
dc.identifier.citationNeuromuscular Disorders. Vol.29, No.7 (2019), 543-548en_US
dc.description.abstract© 2019 Elsevier B.V. Anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase myopathy is less common in children but has been associated with more favorable prognosis than adult patients after immunotherapies. We report anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibody positivity in a 6-year-old boy with progressive muscle weakness, scoliosis, spinal rigidity, multiple joint contractures, mild left ventricular hypertrophy, and elevated serum creatine kinase. In contrast to most of previously reported pediatric anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase myopathy, he showed little response to immunotherapies. Muscle biopsy contained changes suggestive of myofiber necrosis and regeneration and reducing bodies. The diagnosis of reducing body myopathy was later confirmed by reported c.368A>G (p.His123Arg) mutation in the FHL1 gene. Although the level of association between these two conditions is still inconclusive, this is the first report of concurrent positive anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibody with reducing body myopathy emphasizing the possibility of co-occurrence of immune mediated necrotizing myopathy and muscular dystrophy and importance of comprehensive diagnostic investigations in unusual cases.en_US
dc.rightsMahidol Universityen_US
dc.titleConcurrent positive anti-3-hydroxy-3-methylglutaryl-coenzyme a reductase antibody with reducing body myopathy: Possible double troubleen_US
Appears in Collections:Scopus 2019

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