Open AccessEvaluation of Cases With Myotonia Congenita for Cardiovascular Risk
Author(s) -
İbrahim Halil Damar,
Recep Eröz
Publication year - 2019
Publication title -
medeniyet medical journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.128
H-Index - 4
eISSN - 2149-2042
pISSN - 2149-4606
DOI - 10.5222/mmj.2019.93357
Subject(s) - medicine , methylenetetrahydrofolate reductase , cardiology , family history , factor v leiden , thrombophilia , myocardial infarction , coronary artery disease , risk factor , allele , genetics , thrombosis , venous thrombosis , gene , biology
Myotonia Congenita (MC) is a hereditary neuromuscular disorder caused by a mutation in chloride voltage-gated channel 1 (CLCN1) gene. The incidence of MC is estimated as 1 in 100.000. The absence of left main coronary artery (LMCA) is a rare coronary anomaly. Here we present a family with four members who have MC variation carrier and cardiovascular risk.