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Showing 1–2 of 2 results
Advanced filters: Author: Anne-Fleur van Rootselaar Clear advanced filters

  • Familial cortical myoclonic tremor (FAME) has so far been mapped to regions on chromosome 2, 3, 5 and 8 and pentameric repeat expansions in SAMD12 were identified as cause of FAME1. Here, Corbett et al. identify ATTTT/ATTTC repeat expansions in intron 1 of STARD7 in individuals with FAME2.”

    • Mark A. Corbett
    • Thessa Kroes
    • Jozef Gecz
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-10

  • Familial cortical myoclonic tremor with epilepsy (FAME) is a slowly progressing cortical tremor mapping to various genomic loci, including intronic expansions in SAMD12 for FAME1. Here, Florian et al. describe mixed intronic TTTTA/TTTCA expansions of various lengths in the first intron of MARCH6 as a cause of FAME3.

    • Rahel T. Florian
    • Florian Kraft
    • Christel Depienne
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-14