Myotonia associated with caveolin-3 mutation

Muscle & Nerve
Margherita MiloneJasper R Daube

Abstract

Caveolin-3 is a major component of the caveolae in skeletal and cardiac muscle. Mutations in the caveolin-3 gene (CAV3) lead to a spectrum of clinical phenotypes including limb-girdle muscular dystrophy 1C, distal myopathy, rippling muscle disease, isolated hyperCKemia, and cardiomyopathy. A 24-year-old man with myalgia, muscle stiffness, and fatigue has normal strength and prominent myotonic discharges in the gastrocnemius. He also has epilepsy. He harbors a heterozygous CAV3 mutation, p.V57M. He has no mutations in CLCN1 and SCN4A, and he had normal genetic testing for myotonic dystrophy type 1 and type 2. Mutations in CAV3, and in particular p.V57M in CAV3, previously reported in isolated familial hyperCKemia, can be associated with electrical myotonia.

References

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Citations

May 15, 2013·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·T LiewluckM Milone
Mar 29, 2013·Muscle & Nerve·Chad R HeatwoleEric L Logigian
Oct 25, 2016·Neurologia i neurochirurgia polska·Anna MaciasAnna Kaminska
Apr 10, 2020·Muscle & Nerve·Bas C StunnenbergJeffrey M Statland
Oct 2, 2019·Experimental and Therapeutic Medicine·Yiyuan HuangQin Huang
Feb 11, 2021·Practical Neurology·Emma MatthewsDoreen Fialho

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