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    Neuromuscul Disord. 2005 Aug;15(8):525-31.

    A novel desmin R355P mutation causes cardiac and skeletal myopathy.

    Fidziańska A, Kotowicz J, Sadowska M, Goudeau B, Walczak E, Vicart P, Hausmanowa-Petrusewicz I.

    Neuromuscular Unit, MRC, Polish Academy of Science, Pawinskiego 5, Warsaw 02-106, Poland. neurmyol@cmdik.pan.pl

    A novel desmin R355P mutation has been identified in a patient with familial cardiac and skeletal myopathy. Two types of desmin storage were observed in the skeletal muscles. The spheroid-like bodies dominated in type 2 fibres while extensive accumulation of granulofilamentous material was found in type 1 fibres and in cardiomyocytes. A novel missense mutation R355P in the rod domain located in the C-terminal part of the 2B subunit is the eighth missense mutation, which changes the original aminoacid into proline. Proline is known to disrupt the alpha-helix and distort a unique stutter sequence that is critically important for proper filament assembly.

    PMID: 16009553 [PubMed - indexed for MEDLINE]

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