Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: Scapuloperoneal and respiratory weakness with dilated cardiomyopathy

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dc.contributor.authorYueceyar, Nur
dc.contributor.authorAyhan, Ozgecan
dc.contributor.authorKarasoy, Hatice
dc.contributor.authorTolun, Aslihan
dc.date.accessioned2019-10-27T23:01:23Z
dc.date.available2019-10-27T23:01:23Z
dc.date.issued2015
dc.departmentEge Üniversitesien_US
dc.description.abstractMyosin storage myopathy (MSM) is a protein aggregate myopathy caused by the accumulation of myosin in muscle fibres and results from MYH7 mutation. Although MYH7 mutation is also an established cause of variable cardiomyopathy with or without skeletal myopathy, cardiomyopathy with MSM is a rare combination. Here, we update the clinical findings in the two brothers that we previously reported as having recessively inherited MSM characterized by scapuloperoneal distribution of weakness and typical hyaline-like bodies in type 1 muscle fibres. One of the patients, weak from childhood but not severely symptomatic until 28 years of age, had an unusual combination of MSM, severe dilated cardiomyopathy, and respiratory impairment at the age of 44 years. We identified homozygous missense mutation c.5458C>T (p.R1820W) in exon 37 in these patients as the second recessive MYH7 mutation reported to date. (C) 2015 Elsevier B.V. All rights reserved.en_US
dc.description.sponsorshipBogazici University Research FundBogazici University [6655]en_US
dc.description.sponsorshipWe thank the family members for their cooperation and Dr Meral Kayikcioglu for the cardiologic evaluation. We are grateful to TUBITAK Advanced Genomics and Bioinformatics Group (IGBAM) for sharing the Turkish exome sequence database with us. This work was partially supported by the Bogazici University Research Fund, grant number 6655.en_US
dc.identifier.doi10.1016/j.nmd.2015.01.007en_US
dc.identifier.endpage344en_US
dc.identifier.issn0960-8966
dc.identifier.issn1873-2364
dc.identifier.issue4en_US
dc.identifier.pmid25666907en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage340en_US
dc.identifier.urihttps://doi.org/10.1016/j.nmd.2015.01.007
dc.identifier.urihttps://hdl.handle.net/11454/52157
dc.identifier.volume25en_US
dc.identifier.wosWOS:000353081700008en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherPergamon-Elsevier Science Ltden_US
dc.relation.ispartofNeuromuscular Disordersen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectMyosin storage myopathyen_US
dc.subjectDilated cardiomyopathyen_US
dc.subjectMYH7en_US
dc.titleHomozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: Scapuloperoneal and respiratory weakness with dilated cardiomyopathyen_US
dc.typeArticleen_US

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