WordNet

abnormally long muscular contractions; slow relaxation of a muscle after a contraction

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Liu XL1, Huang XJ, Shen JY, Zhou HY, Luan XH, Wang T, Chen SD, Wang Y, Tang HD, Cao L.
Channels (Austin, Tex.).Channels (Austin).2015 Aug 11:263-269. [Epub ahead of print]
Myotonia congenita belongs to the group of non-dystrophic myotonia caused by mutations of CLCN1gene, which encodes human skeletal muscle chloride channel 1. It can be inherited either in autosomal dominant (Thomsen disease) or recessive (Becker disease) forms. Here we have sequenced all 23 exons and
PMID 26260254

SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies.

Bissay V1, Van Malderen SC2, Keymolen K3, Lissens W3, Peeters U3, Daneels D3, Jansen AC4, Pappaert G5, Brugada P5, De Keyser J6, Van Dooren S3.
European journal of human genetics : EJHG.Eur J Hum Genet.2015 Jun 3. doi: 10.1038/ejhg.2015.125. [Epub ahead of print]
SCN5A mutations involving the α-subunit of the cardiac voltage-gated muscle sodium channel (NaV1.5) result in different cardiac channelopathies with an autosomal-dominant inheritance such as Brugada syndrome. On the other hand, mutations in SCN4A encoding the α-subunit of the skeletal voltage-gate
PMID 26036855

Limbic encephalitis with anti-GAD antibodies and Thomsen myotonia: a casual or causal association?

Licchetta L1, Bisulli F1, Naldi I1, Mainieri G1, Tinuper P1.
Epileptic disorders : international epilepsy journal with videotape.Epileptic Disord.2014 Sep;16(3):362-5. doi: 10.1684/epd.2014.0668.
The association between hereditary myotonic disorders and epilepsy is seldom described in the literature. To date, few reports have dealt with dystrophic myotonias, whereas a single case demonstrating an association between sporadic congenital myotonia and epilepsy was recently reported in a patient
PMID 25036107

Kurihara Teruyuki
Internal Medicine 44(10), 1027-1032, 2005
… Myotonia is repetitive firing of muscle action potentials causing prolonged muscle contractions even after mechanical stimulations to the muscles have ceased. … Both DM1 and DM2 have Cl channel abnormality which causes myotonia. … Less commonly we encounter Thomsen's disease, and autosomal recessive generalized myotonia (Becker type) which also have a Cl channel abnormality. …
NAID 130000085263