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Myotonia levior

MedGen UID:
82861
•Concept ID:
C0270959
•
Disease or Syndrome
Synonym: Myotonia Levior
SNOMED CT: Myotonia levior (8960007)
 
OMIM®: 118425; 160800

Professional guidelines

PubMed

Guidelines on clinical presentation and management of nondystrophic myotonias.
Stunnenberg BC, LoRusso S, Arnold WD, Barohn RJ, Cannon SC, Fontaine B, Griggs RC, Hanna MG, Matthews E, Meola G, Sansone VA, Trivedi JR, van Engelen BGM, Vicart S, Statland JM
Muscle Nerve 2020 Oct;62(4):430-444. Epub 2020 May 27 doi: 10.1002/mus.26887. PMID: 32270509Free PMC Article
Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease).
Coote DJ, Davis MR, Cabrera M, Needham M, Laing NG, Nowak KJ
Eur J Hum Genet 2018 Jul;26(7):1072-1077. Epub 2018 Apr 26 doi: 10.1038/s41431-017-0065-3. PMID: 29695755Free PMC Article
The myotonias: their diagnosis and treatment.
Moxley RT 3rd
Compr Ther 1996 Jan;22(1):8-21. PMID: 8654027

Recent clinical studies

Etiology

Myotonia levior is a chloride channel disorder.
Lehmann-Horn F, Mailänder V, Heine R, George AL
Hum Mol Genet 1995 Aug;4(8):1397-402. doi: 10.1093/hmg/4.8.1397. PMID: 7581380

Diagnosis

Myotonia levior is a chloride channel disorder.
Lehmann-Horn F, Mailänder V, Heine R, George AL
Hum Mol Genet 1995 Aug;4(8):1397-402. doi: 10.1093/hmg/4.8.1397. PMID: 7581380
Myotonia levior: contribution to the nosography.
Siciliano G, Risaliti R, Vignocchi G, Rossi B
Riv Neurol 1988 Sep-Oct;58(5):204-9. PMID: 3231989

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