Characterization of congenital myopathies at a Korean neuromuscular center.

Park, Young-Eun; Shin, Jin-Hong; Kim, Hyang-Sook; Lee, Chang-Hoon; Kim, Dae-Seong

Park, Young-Eun; Shin, Jin-Hong; Kim, Hyang-Sook; Lee, Chang-Hoon; Kim, Dae-Seong.

Affiliation

Park YE; Department of Neurology, Pusan National University School of Medicine, Busan, South Korea.
Shin JH; Biomedical Research Institute, Pusan National University Hospital, Busan, South Korea.
Kim HS; Department of Neurology, Pusan National University School of Medicine, Busan, South Korea.
Lee CH; Research Institute for Convergence of Biomedical Research and Technology, Pusan National University Yangsan Hospital, Gyeongnam, South Korea.
Kim DS; Research Institute for Convergence of Biomedical Research and Technology, Pusan National University Yangsan Hospital, Gyeongnam, South Korea.

Muscle Nerve ; 58(2): 235-244, 2018 Aug.

Article in En | MEDLINE | ID: mdl-29669168

Subject(s)

Myotonia Congenita/pathology; Adolescent; Adult; Age of Onset; Child; Child, Preschool; Dynamin II; Dynamins/genetics; Female; Humans; Infant; Male; Muscle Fibers, Skeletal/pathology; Muscle Proteins/genetics; Mutation; Myopathies, Nemaline/genetics; Myopathies, Nemaline/pathology; Myopathies, Structural, Congenital/congenital; Myopathies, Structural, Congenital/genetics; Myopathies, Structural, Congenital/pathology; Myopathy, Central Core/congenital; Myopathy, Central Core/genetics; Myopathy, Central Core/pathology; Myotonia Congenita/genetics; Republic of Korea; Retrospective Studies; Ryanodine Receptor Calcium Release Channel/genetics; Treatment Outcome; Young Adult

Key words

central nuclei; congenital myopathy; core; fiber type disproportion; molecular genetics; nemaline rods

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Myotonia Congenita Type of study: Observational_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Country/Region as subject: Asia Language: En Journal: Muscle Nerve Year: 2018 Type: Article Affiliation country: South Korea

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