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Myotonic dystrophy type i combined with X-linked dominant Charcot-Marie-Tooth neuropathy

Title
Myotonic dystrophy type i combined with X-linked dominant Charcot-Marie-Tooth neuropathy
Authors
Kim H.S.Chung K.W.Kang S.H.Choi S.K.Cho S.Y.Koo H.Kim S.-B.Choi B.-O.
Ewha Authors
구혜수최병옥최선영
SCOPUS Author ID
구혜수scopus; 최선영scopus
Issue Date
2010
Journal Title
Neurogenetics
ISSN
1364-6745JCR Link
Citation
vol. 11, no. 4, pp. 425 - 433
Indexed
SCIE; SCOPUS WOS scopus
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.
DOI
10.1007/s10048-010-0246-5
Appears in Collections:
의학전문대학원 > 의학과 > Journal papers
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