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Kirsi Kiiski on Muck Rack

Kirsi Kiiski

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Articles

Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions - European Journal of Human Genetics

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By Lydia Sagath, Kirsi Kiiski, Per Jonson, Maureen Galindo, Marco Savarese, Susan T. Iannaccone, Alan H. Beggs, Katarina Pelin, Milla Laarne
| Nature Verified
Abstract Structural variants (SVs) of the nebulin gene (NEB), including intragenic duplications, deletions, and copy number variation of the triplicate region, are an established cause of recessively inherited nemaline myopathies and related neuromuscular disorders. Large deletions have been shown to cause dominantly inherited distal myopathies. Here we provide an overview of 35 families with muscle disorders caused by such SVs in NEB.
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