Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 구혜수 | - |
dc.contributor.author | 최병옥 | - |
dc.contributor.author | 최선영 | - |
dc.date.accessioned | 2016-08-28T12:08:42Z | - |
dc.date.available | 2016-08-28T12:08:42Z | - |
dc.date.issued | 2010 | - |
dc.identifier.issn | 1364-6745 | - |
dc.identifier.other | OAK-6915 | - |
dc.identifier.uri | https://dspace.ewha.ac.kr/handle/2015.oak/221055 | - |
dc.description.abstract | Both the myotonic dystrophy type 1 (DM1) and the X-linked dominant Charcot-Marie-Tooth disease (CMTX1) are well-established inherited neuromuscular disorders characterized by progressive weakness and atrophy of the distal limb muscles. The underlying causes of the DM1 and CMTX1 are mutations in the DMPK and GJB1 gene, respectively. A patient with both DM1 and CMTX1 inherited these from his father and mother, respectively. Histopathological and electrodiagnostic studies revealed both chronic neuropathic and myopathic features. Physical disabilities were more severe than seen with either DM1 or CMTX1 alone. In addition, the present case reveals an asymmetric atrophy (22%) of the right calf muscle compared to the left side. © Springer-Verlag 2010. | - |
dc.language | English | - |
dc.title | Myotonic dystrophy type i combined with X-linked dominant Charcot-Marie-Tooth neuropathy | - |
dc.type | Article | - |
dc.relation.issue | 4 | - |
dc.relation.volume | 11 | - |
dc.relation.index | SCIE | - |
dc.relation.index | SCOPUS | - |
dc.relation.startpage | 425 | - |
dc.relation.lastpage | 433 | - |
dc.relation.journaltitle | Neurogenetics | - |
dc.identifier.doi | 10.1007/s10048-010-0246-5 | - |
dc.identifier.wosid | WOS:000282183200007 | - |
dc.identifier.scopusid | 2-s2.0-78651346924 | - |
dc.author.google | Kim H.S. | - |
dc.author.google | Chung K.W. | - |
dc.author.google | Kang S.H. | - |
dc.author.google | Choi S.K. | - |
dc.author.google | Cho S.Y. | - |
dc.author.google | Koo H. | - |
dc.author.google | Kim S.-B. | - |
dc.author.google | Choi B.-O. | - |
dc.contributor.scopusid | 구혜수(7102121023;57217717081;56612832400) | - |
dc.contributor.scopusid | 최병옥(7402755390) | - |
dc.contributor.scopusid | 최선영(57207282104;55736572600) | - |
dc.date.modifydate | 20230120133004 | - |