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Autor:
Dae Seong Kim, Hyun Yoon Ko, Kyu-Hyun Park, Dae Soo Jung, Ki Young Kwak, Eun-Joo Kim, Cheol Min Kim, In Joo Kim
Publikováno v:
Journal of Korean Medical Science
A family with paramyotonia congenita (PC) is presented. At least 10 family members were affected in an autosomal dominant inheritance pattern. The proband had cold-sensitive muscle stiffness, paradoxical myotonia, and intermittent muscle weakness sin