Myotonic dystrophy type 1 cosegregating with autosomal dominant polycystic kidney disease type 2

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The authors confirm that the data supporting the findings of this study are available within the article and/or its supplementary materials.


  1. 1.

    Alsaggaf R, St George DMM, Zhan M, Pfeiffer RM, Wang Y, Wagner KR, Greene MH, Amr S, Gadalla SM (2018) Cancer risk in myotonic dystrophy type i: evidence of a role for disease severity. JNCI Cancer Spectr 2(4):pky052

    PubMed  PubMed Central  Article  Google Scholar 

  2. 2.

    Yu TM, Chuang YW, Yu MC, Chen CH, Yang CK, Huang ST, Lin CL, Shu KH, Kao CH (2016) Risk of cancer in patients with polycystic kidney disease: a propensity-score matched analysis of a nationwide, population-based cohort study. Lancet Oncol 17:1419–1425

    PubMed  Article  Google Scholar 

  3. 3.

    Hodapp JA, Carter GT, Lipe HP, Michelson SJ, Kraft GH, Bird TD (2006) Double trouble in hereditary neuropathy: concomitant mutations in the PMP-22 gene and another gene produce novel phenotypes. Arch Neurol 63:112–117

    PubMed  Article  Google Scholar 

  4. 4.

    Masciullo M, Iannaccone E, Bianchi ML, Santoro M, Conte G, Modoni A, Monforte M, Tasca G, Laschena F, Ricci E, Silvestri G (2013) Myotonic dystrophy type 1 and de novo FSHD mutation double trouble: a clinical and muscle MRI study. Neuromuscul Disord 23:427–431

    CAS  PubMed  Article  Google Scholar 

  5. 5.

    Emery AE, Oleesky S, Williams RT (1967) Myotonic dystrophy and polycystic disease of the kidneys. J Med Genet 4:26–28

    CAS  PubMed  PubMed Central  Article  Google Scholar 

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Correspondence to Gabriella Silvestri.

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Ethical approval

The study was carried out in compliance with the Helsinki Declaration and with the guidelines of the Ethical Committee of our Institution. A written informed consent was obtained from all patients about storage and use of their DNA samples for both diagnostic and clinical research studies concerning their disease.

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This study was not sponsored. The authors report no conflict of interests.

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Nicoletti, T., Chiurazzi, P., Castori, M. et al. Myotonic dystrophy type 1 cosegregating with autosomal dominant polycystic kidney disease type 2. Neurol Sci (2020).

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