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Inclusion body myopathy, autosomal dominant

MedGen UID:
419171
Concept ID:
C2931820
Disease or Syndrome
Synonyms: Inclusion body myopathy 3
 

Recent clinical studies

Etiology

Li S, Zhang P, Freibaum BD, Kim NC, Kolaitis RM, Molliex A, Kanagaraj AP, Yabe I, Tanino M, Tanaka S, Sasaki H, Ross ED, Taylor JP, Kim HJ
Hum Mol Genet 2016 Mar 1;25(5):936-50. Epub 2016 Jan 6 doi: 10.1093/hmg/ddv627. PMID: 26744327Free PMC Article
Broccolini A, Mirabella M
Biochim Biophys Acta 2015 Apr;1852(4):644-50. Epub 2014 Aug 19 doi: 10.1016/j.bbadis.2014.08.007. PMID: 25149037

Diagnosis

Lu Y, Li X, Wang M, Li X, Zhang F, Li Y, Zhang M, Da Y, Yu J, Jia J
PLoS One 2012;7(6):e39288. Epub 2012 Jun 18 doi: 10.1371/journal.pone.0039288. PMID: 22723986Free PMC Article

Therapy

Wang HF, Shih YT, Chen CY, Chao HW, Lee MJ, Hsueh YP
J Clin Invest 2011 Dec;121(12):4820-37. Epub 2011 Nov 21 doi: 10.1172/JCI45677. PMID: 22105171Free PMC Article

Prognosis

Lu Y, Li X, Wang M, Li X, Zhang F, Li Y, Zhang M, Da Y, Yu J, Jia J
PLoS One 2012;7(6):e39288. Epub 2012 Jun 18 doi: 10.1371/journal.pone.0039288. PMID: 22723986Free PMC Article

Clinical prediction guides

Li S, Zhang P, Freibaum BD, Kim NC, Kolaitis RM, Molliex A, Kanagaraj AP, Yabe I, Tanino M, Tanaka S, Sasaki H, Ross ED, Taylor JP, Kim HJ
Hum Mol Genet 2016 Mar 1;25(5):936-50. Epub 2016 Jan 6 doi: 10.1093/hmg/ddv627. PMID: 26744327Free PMC Article
Lu Y, Li X, Wang M, Li X, Zhang F, Li Y, Zhang M, Da Y, Yu J, Jia J
PLoS One 2012;7(6):e39288. Epub 2012 Jun 18 doi: 10.1371/journal.pone.0039288. PMID: 22723986Free PMC Article
Wang Y, Melkani GC, Suggs JA, Melkani A, Kronert WA, Cammarato A, Bernstein SI
Mol Biol Cell 2012 Jun;23(11):2057-65. Epub 2012 Apr 11 doi: 10.1091/mbc.E12-02-0120. PMID: 22496423Free PMC Article

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