Slow relaxation kinetics of sarcomeres contribute to muscle slowness in NEM6 patients


Nemaline myopathy (NEM) is among the most common non-dystrophic congenital myopathies and is characterized by muscle weakness. Recently, a novel implicated gene was discovered – KBTBD13. The majority of NM patients with KBTBD13 mutations (NEM6) carry the Dutch founder mutation (c.1222C>T, p.Arg408Cys missense mutation). NEM6 patients display a typical slowness of movement. Here, we investigated the pathophysiology of muscle weakness and slowness of movement in twelve NEM6 patients. Handgrip dynamometry was used to measure contraction and transcranial magnetic stimulation- induced relaxation properties of finger flexors.


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