Article
A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia.
Human mutation - 1 Jul 2011
Kubota Tomoya, Roca Xavier, Kimura Takashi, Kokunai Yosuke, Nishino Ichizo, Sakoda Saburo, Krainer Adrian R, Takahashi Masanori P
Abstract excerpt
Many mutations in the skeletal-muscle sodium-channel gene SCN4A have been associated with myotonia and/or periodic paralysis, but so far all of these mutations are located in exons. We found a patient with myotonia caused by a deletion/insertion located in intron 21 of SCN4A, which is an AT-AC type II intron. This is a rare class of introns that, despite having AT-AC boundaries, are spliced by the major or...
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