Nemaline myopathy and other neuromuscular disorders

    Project: Research project

    Project Details

    Description (abstract)

    The aims of the research are to elucidate the clinical picture, the molecular causes and the pathogenetic mechanisms of hereditary disorders of the muscle sarcomere, especially nemaline myopathy and similar neuromuscular disorders.
    The group is working towards practically applicable diagnostic methods based on mutation detection and studies of protein expression. The group is involved in multidisciplinary international collaboration on nemaline myopathy within the International Consortium on Nemaline Myopathy, coordinated by Dr. Wallgren-Pettersson and Prof. Nigel G. Laing from Perth, Australia. The international database on nemaline myopathy has been established in Helsinki.
    Another research interest within the group is myotubular (centronuclear) myopathy. The PI is the Finnish representative on the Governing Board of the new EU-funded Network of Excellence, TREAT-NMD, aiming towards harmonisation of diagnostics and care for patients with neuromuscular disorders.

    Members of the group
    Carina Wallgren-Pettersson, PI, MD, Doctor of Medical Sciences
    Katarina Pelin, Co-PI, PhD
    Mubashir Hanif, PhD, Postdoctoral Scientist
    Vilma-Lotta Lehtokari, PhD, Postdoctoral Scientist
    Minttu Marttila, MSc, PhD Student
    Kirsi Kiiski, MSc, PhD Student
    Jenni Laitila, MSc, PhD Student
    Marilotta Turunen, Laboratory Nurse and Research Assistant
    Liina Laari, MSc Student
    Pauliina Vornanen, MSc Student

    Affiliated expert:
    Mikaela Grönholm, PhD
    Kati Donner, PhD
    Effective start/end date01/01/1985 → …

    Fields of Science

    • 3124 Neurology and psychiatry