Pub Date : 2022-06-30DOI: 10.46518/kjnmd.2022.14.1.16
Min Soo Sung, Seung-Ah Lee, Byeong Joo Choi, Young-Chul Choi, H. Park
We reported an age 32 male with progressive proximal muscle weakness. The serum creatine kinase was 1,908 IU/L. The muscle biopsy from biceps brachii muscle showed nonspecific myopathic changes. The whole exome sequencing identified a heterozygous variant (c.296A>C) in CAV3. It was previously reported as a likely pathogenic variant. It was also detected in the male’s mother and brother. However, his mother and brother had only hyperCKemia without muscle weakness. Our case showed phenotypic heterogeneity in a family, with the same variant in CAV3.
{"title":"A Familial Case with Phenotypic Differences in a CAV3 Pathogenic Variant","authors":"Min Soo Sung, Seung-Ah Lee, Byeong Joo Choi, Young-Chul Choi, H. Park","doi":"10.46518/kjnmd.2022.14.1.16","DOIUrl":"https://doi.org/10.46518/kjnmd.2022.14.1.16","url":null,"abstract":"We reported an age 32 male with progressive proximal muscle weakness. The serum creatine kinase was 1,908 IU/L. The muscle biopsy from biceps brachii muscle showed nonspecific myopathic changes. The whole exome sequencing identified a heterozygous variant (c.296A>C) in CAV3. It was previously reported as a likely pathogenic variant. It was also detected in the male’s mother and brother. However, his mother and brother had only hyperCKemia without muscle weakness. Our case showed phenotypic heterogeneity in a family, with the same variant in CAV3.","PeriodicalId":101680,"journal":{"name":"Korean Journal of Neuromuscular Disorders","volume":"30 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123329917","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-06-30DOI: 10.46518/kjnmd.2022.14.1.6
Young-Eun Park, Jin-Hong Shin, Dae-Seong Kim
Muscle and nerve biopsy may be vital diagnostic tools in various neuromuscular disorders. Since these procedures are invasive, it matters to decide when to perform a biopsy, which muscle or nerve to be selected, and how to interpret the pathologies. This review addresses the indications, methods of biopsies, and also significant pathological findings frequently encountered in muscle and nerve pathology.
{"title":"Muscle and Nerve Biopsy in Various Neuromuscular Disorders","authors":"Young-Eun Park, Jin-Hong Shin, Dae-Seong Kim","doi":"10.46518/kjnmd.2022.14.1.6","DOIUrl":"https://doi.org/10.46518/kjnmd.2022.14.1.6","url":null,"abstract":"Muscle and nerve biopsy may be vital diagnostic tools in various neuromuscular disorders. Since these procedures are invasive, it matters to decide when to perform a biopsy, which muscle or nerve to be selected, and how to interpret the pathologies. This review addresses the indications, methods of biopsies, and also significant pathological findings frequently encountered in muscle and nerve pathology.","PeriodicalId":101680,"journal":{"name":"Korean Journal of Neuromuscular Disorders","volume":"30 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125193939","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-06-30DOI: 10.46518/kjnmd.2022.14.1.1
Seung Woo Kim, H. Shin
Autoantibodies are present in many autoimmune disorders, including diseases impacting the peripheral nerve, neuromuscular junction, and muscle. Some of these autoantibodies play a vital role in pathogenesis, whereas others are unlikely to be directly pathogenic, but may be useful biomarkers. The identification of autoantibodies is valuable in diagnosis, as well as in establishing a treatment plan in antibody-mediated neuromuscular disorders. This review briefly summarizes antibody, autoantibody, and methods of autoantibody testing for clinicians who treat patients with neuromuscular disorders.
{"title":"Autoantibody Testing in Neuromuscular Disorders","authors":"Seung Woo Kim, H. Shin","doi":"10.46518/kjnmd.2022.14.1.1","DOIUrl":"https://doi.org/10.46518/kjnmd.2022.14.1.1","url":null,"abstract":"Autoantibodies are present in many autoimmune disorders, including diseases impacting the peripheral nerve, neuromuscular junction, and muscle. Some of these autoantibodies play a vital role in pathogenesis, whereas others are unlikely to be directly pathogenic, but may be useful biomarkers. The identification of autoantibodies is valuable in diagnosis, as well as in establishing a treatment plan in antibody-mediated neuromuscular disorders. This review briefly summarizes antibody, autoantibody, and methods of autoantibody testing for clinicians who treat patients with neuromuscular disorders.","PeriodicalId":101680,"journal":{"name":"Korean Journal of Neuromuscular Disorders","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129510010","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-12-31DOI: 10.46518/kjnmd.2021.13.2.44
Kyomin Choi, Y. Moon, Jeeyoung Oh
{"title":"Co-Existence of Anterior and Posterior Column Lesions in Patients with Subacute Combined Degeneration","authors":"Kyomin Choi, Y. Moon, Jeeyoung Oh","doi":"10.46518/kjnmd.2021.13.2.44","DOIUrl":"https://doi.org/10.46518/kjnmd.2021.13.2.44","url":null,"abstract":"","PeriodicalId":101680,"journal":{"name":"Korean Journal of Neuromuscular Disorders","volume":"56 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124783466","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-12-31DOI: 10.46518/kjnmd.2021.13.2.59
Hyunkee Kim, Sanggon Lee
Address for correspondence: Sanggon Lee, MD, MSc Department of Neurology, College of Medicine, Hanyang University, 222-1 Wangsimni-ro, Seongdong-gu, Seoul 04763, Korea Tel: +82-2-2290-8369; Fax: +82-2-2296-8370, E-mail: sanggonlee@hanyang.ac.kr pISSN 2093-3312 eISSN 2765-2246 Korean Journal of Neuromuscular Disorders Vol. 13 No. 2, December 2021 https://doi.org/10.46518/kjnmd.2021.13.2.59 Case Report
通信地址:首尔城东区王新里路222-1号汉阳大学医学院神经内科医学硕士李尚君(音译)电话:+82-2-22 290-8369;传真:+82-2-2296-8370,E-mail: sanggonlee@hanyang.ac.kr pISSN 2093-3312 eISSN 2765-2246 Korean Journal of Neuromuscular Disorders Vol. 13 No. 2, December 2021 https://doi.org/10.46518/kjnmd.2021.13.2.59病例报告
{"title":"A Case of POEMS Syndrome Previously Diagnosed with Extramedullary Plasmacytoma","authors":"Hyunkee Kim, Sanggon Lee","doi":"10.46518/kjnmd.2021.13.2.59","DOIUrl":"https://doi.org/10.46518/kjnmd.2021.13.2.59","url":null,"abstract":"Address for correspondence: Sanggon Lee, MD, MSc Department of Neurology, College of Medicine, Hanyang University, 222-1 Wangsimni-ro, Seongdong-gu, Seoul 04763, Korea Tel: +82-2-2290-8369; Fax: +82-2-2296-8370, E-mail: sanggonlee@hanyang.ac.kr pISSN 2093-3312 eISSN 2765-2246 Korean Journal of Neuromuscular Disorders Vol. 13 No. 2, December 2021 https://doi.org/10.46518/kjnmd.2021.13.2.59 Case Report","PeriodicalId":101680,"journal":{"name":"Korean Journal of Neuromuscular Disorders","volume":"68 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124513964","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-12-31DOI: 10.46518/kjnmd.2021.13.2.52
Euihyun Sung, H. Kim, H. Lee, Sanggon Lee
Address for correspondence: Sanggon Lee, MD, MSc Department of Neurology, Hanyang University College of Medicine, 222-1 Wangsimni-ro, Seongdong-gu, Seoul 04763, Korea Tel: +82-2-2290-8367, Fax: +82-2-2290-8370, E-mail: sanggonlee.nr@gmail.com pISSN 2093-3312 eISSN 2765-2246 Korean Journal of Neuromuscular Disorders Vol. 13 No. 2, December 2021 https://doi.org/10.46518/kjnmd.2021.13.2.52 Case Report
{"title":"Amphiphilic Myopathy Induced by Hydroxychloroquine Presenting with Dysarthria","authors":"Euihyun Sung, H. Kim, H. Lee, Sanggon Lee","doi":"10.46518/kjnmd.2021.13.2.52","DOIUrl":"https://doi.org/10.46518/kjnmd.2021.13.2.52","url":null,"abstract":"Address for correspondence: Sanggon Lee, MD, MSc Department of Neurology, Hanyang University College of Medicine, 222-1 Wangsimni-ro, Seongdong-gu, Seoul 04763, Korea Tel: +82-2-2290-8367, Fax: +82-2-2290-8370, E-mail: sanggonlee.nr@gmail.com pISSN 2093-3312 eISSN 2765-2246 Korean Journal of Neuromuscular Disorders Vol. 13 No. 2, December 2021 https://doi.org/10.46518/kjnmd.2021.13.2.52 Case Report","PeriodicalId":101680,"journal":{"name":"Korean Journal of Neuromuscular Disorders","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129946606","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-12-31DOI: 10.46518/kjnmd.2021.13.2.67
J. Seok
Address for correspondence: Jung Im Seok, MD Department of Neurology, School of Medicine, Catholic University of Daegu, 33 Duryugongwon-ro 17-gil, Nam-gu, Daegu 38430, Korea Tel: +82-53-650-3440, Fax: +82-53-654-9786, E-mail: jihelpgod@cu.ac.kr pISSN 2093-3312 eISSN 2765-2246 Korean Journal of Neuromuscular Disorders Vol. 13 No. 2, December 2021 https://doi.org/10.46518/kjnmd.2021.13.2.67 Brief Communication
{"title":"A Case of Guillain-Barre Syndrome after COVID-19 Vaccination","authors":"J. Seok","doi":"10.46518/kjnmd.2021.13.2.67","DOIUrl":"https://doi.org/10.46518/kjnmd.2021.13.2.67","url":null,"abstract":"Address for correspondence: Jung Im Seok, MD Department of Neurology, School of Medicine, Catholic University of Daegu, 33 Duryugongwon-ro 17-gil, Nam-gu, Daegu 38430, Korea Tel: +82-53-650-3440, Fax: +82-53-654-9786, E-mail: jihelpgod@cu.ac.kr pISSN 2093-3312 eISSN 2765-2246 Korean Journal of Neuromuscular Disorders Vol. 13 No. 2, December 2021 https://doi.org/10.46518/kjnmd.2021.13.2.67 Brief Communication","PeriodicalId":101680,"journal":{"name":"Korean Journal of Neuromuscular Disorders","volume":"5 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116381185","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-12-31DOI: 10.46518/kjnmd.2021.13.2.33
J. Seo, Y. Kim, Ji Won Lee, J. Bae
Address for correspondence: Jong Seok Bae, MD, PhD Department of Neurology, Kangdong Sacred Heart Hospital, Hallym University College of Medicine, 150 Seongan-ro, Gangdong-gu, Seoul 05355, Korea Tel: +82-2-2224-2206, Fax: +82-2-2224-2339, E-mail: jsbae69@gmail.com pISSN 2093-3312 eISSN 2765-2246 Korean Journal of Neuromuscular Disorders Vol. 13 No. 2, December 2021 https://doi.org/10.46518/kjnmd.2021.13.2.33 Case Report
{"title":"Polyneuropathy Following Nitrous Oxide Abuse","authors":"J. Seo, Y. Kim, Ji Won Lee, J. Bae","doi":"10.46518/kjnmd.2021.13.2.33","DOIUrl":"https://doi.org/10.46518/kjnmd.2021.13.2.33","url":null,"abstract":"Address for correspondence: Jong Seok Bae, MD, PhD Department of Neurology, Kangdong Sacred Heart Hospital, Hallym University College of Medicine, 150 Seongan-ro, Gangdong-gu, Seoul 05355, Korea Tel: +82-2-2224-2206, Fax: +82-2-2224-2339, E-mail: jsbae69@gmail.com pISSN 2093-3312 eISSN 2765-2246 Korean Journal of Neuromuscular Disorders Vol. 13 No. 2, December 2021 https://doi.org/10.46518/kjnmd.2021.13.2.33 Case Report","PeriodicalId":101680,"journal":{"name":"Korean Journal of Neuromuscular Disorders","volume":"91 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116909137","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-12-31DOI: 10.46518/kjnmd.2021.13.2.28
Yo Sep Kim, J. Seok, Dong Kuck Lee, Jae Han Park, Jung A. Park
Address for correspondence: Jung Im Seok, MD Department of Neurology, School of Medicine, Catholic University of Daegu, 33 Duryugongwon-ro 17-gil, Nam-gu, Daegu 42472, Korea Tel: +82-53-650-3440, Fax: +82-53-654-9786, E-mail: jihelpgod@cu.ac.kr pISSN 2093-3312 eISSN 2765-2246 Korean Journal of Neuromuscular Disorders Vol. 13 No. 2, December 2021 https://doi.org/10.46518/kjnmd.2021.13.2.28 Original Article
{"title":"Serious Neurological Disorders That Mimic Bell’s Palsy: A 10-Year Experience","authors":"Yo Sep Kim, J. Seok, Dong Kuck Lee, Jae Han Park, Jung A. Park","doi":"10.46518/kjnmd.2021.13.2.28","DOIUrl":"https://doi.org/10.46518/kjnmd.2021.13.2.28","url":null,"abstract":"Address for correspondence: Jung Im Seok, MD Department of Neurology, School of Medicine, Catholic University of Daegu, 33 Duryugongwon-ro 17-gil, Nam-gu, Daegu 42472, Korea Tel: +82-53-650-3440, Fax: +82-53-654-9786, E-mail: jihelpgod@cu.ac.kr pISSN 2093-3312 eISSN 2765-2246 Korean Journal of Neuromuscular Disorders Vol. 13 No. 2, December 2021 https://doi.org/10.46518/kjnmd.2021.13.2.28 Original Article","PeriodicalId":101680,"journal":{"name":"Korean Journal of Neuromuscular Disorders","volume":"17 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"121995996","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-12-31DOI: 10.46518/kjnmd.2021.13.2.40
B. Yoon, Hyein Chung, Jaehoon Cho, Jong Kuk Kim
Address for correspondence: Jong Kuk Kim, MD, PhD Department of Neurology and Peripheral Neuropathy Research Center, Dong-A University College of Medicine, 26 Daesingongwon-ro, Seo-gu, Busan 49201, Korea Tel: +82-51-240-5266, Fax: +82-51-244-8338, E-mail: advania9@chol.com pISSN 2093-3312 eISSN 2765-2246 Korean Journal of Neuromuscular Disorders Vol. 13 No. 2, December 2021 https://doi.org/10.46518/kjnmd.2021.13.2.40 Case Report
{"title":"Acute Motor Axonal Neuropathy Accompanied with Delayed Facial Diplegia","authors":"B. Yoon, Hyein Chung, Jaehoon Cho, Jong Kuk Kim","doi":"10.46518/kjnmd.2021.13.2.40","DOIUrl":"https://doi.org/10.46518/kjnmd.2021.13.2.40","url":null,"abstract":"Address for correspondence: Jong Kuk Kim, MD, PhD Department of Neurology and Peripheral Neuropathy Research Center, Dong-A University College of Medicine, 26 Daesingongwon-ro, Seo-gu, Busan 49201, Korea Tel: +82-51-240-5266, Fax: +82-51-244-8338, E-mail: advania9@chol.com pISSN 2093-3312 eISSN 2765-2246 Korean Journal of Neuromuscular Disorders Vol. 13 No. 2, December 2021 https://doi.org/10.46518/kjnmd.2021.13.2.40 Case Report","PeriodicalId":101680,"journal":{"name":"Korean Journal of Neuromuscular Disorders","volume":"10 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123034163","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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