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TPM2-related cap myopathy

MedGen UID:
413835
Concept ID:
C2750413
Disease or Syndrome
Synonym: Cap Myopathy, Tpm2-Related

Recent clinical studies

Diagnosis

Davidson AE, Siddiqui FM, Lopez MA, Lunt P, Carlson HA, Moore BE, Love S, Born DE, Roper H, Majumdar A, Jayadev S, Underhill HR, Smith CO, von der Hagen M, Hubner A, Jardine P, Merrison A, Curtis E, Cullup T, Jungbluth H, Cox MO, Winder TL, Abdel Salam H, Li JZ, Moore SA, Dowling JJ
Brain 2013 Feb;136(Pt 2):508-21. doi: 10.1093/brain/aws344. PMID: 23413262Free PMC Article
Marttila M, Lemola E, Wallefeld W, Memo M, Donner K, Laing NG, Marston S, Grönholm M, Wallgren-Pettersson C
Biochem J 2012 Feb 15;442(1):231-9. doi: 10.1042/BJ20111030. PMID: 22084935

Prognosis

McAdow J, Yang S, Ou T, Huang G, Dobbs MB, Gurnett CA, Greenberg MJ, Johnson AN
JCI Insight 2022 Jun 22;7(12) doi: 10.1172/jci.insight.152466. PMID: 35579956Free PMC Article
Davidson AE, Siddiqui FM, Lopez MA, Lunt P, Carlson HA, Moore BE, Love S, Born DE, Roper H, Majumdar A, Jayadev S, Underhill HR, Smith CO, von der Hagen M, Hubner A, Jardine P, Merrison A, Curtis E, Cullup T, Jungbluth H, Cox MO, Winder TL, Abdel Salam H, Li JZ, Moore SA, Dowling JJ
Brain 2013 Feb;136(Pt 2):508-21. doi: 10.1093/brain/aws344. PMID: 23413262Free PMC Article

Clinical prediction guides

McAdow J, Yang S, Ou T, Huang G, Dobbs MB, Gurnett CA, Greenberg MJ, Johnson AN
JCI Insight 2022 Jun 22;7(12) doi: 10.1172/jci.insight.152466. PMID: 35579956Free PMC Article
Davidson AE, Siddiqui FM, Lopez MA, Lunt P, Carlson HA, Moore BE, Love S, Born DE, Roper H, Majumdar A, Jayadev S, Underhill HR, Smith CO, von der Hagen M, Hubner A, Jardine P, Merrison A, Curtis E, Cullup T, Jungbluth H, Cox MO, Winder TL, Abdel Salam H, Li JZ, Moore SA, Dowling JJ
Brain 2013 Feb;136(Pt 2):508-21. doi: 10.1093/brain/aws344. PMID: 23413262Free PMC Article

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