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Hyun Sook Kim Ki Wha Chung Sung Hee Kang Sung Kyung Choi Sun Young Cho Heasoo Koo Sang-Beom Kim Byung-Ok Choi 《Neurogenetics》2010,11(4):425-433
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. 相似文献
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Lee Dongwhane Lee Deok Hee Suh Dae Chul Kwon Hyuk Sung Jeong Da-Eun Kim Joong-Goo Lee Ji-Sung Kim Jong S. Kang Dong-Wha Jeon Sang-Beom Lee Eun-Jae Noh Kyung Chul Kwon Sun U. 《Journal of neurology》2019,266(9):2286-2293
Journal of Neurology - This study aimed to evaluate the efficacy of intra-arterial thrombectomy (IAT) and prognosis for acute ischaemic stroke patients with active cancer. We retrospectively... 相似文献
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Choi BO Kang SH Hyun YS Kanwal S Park SW Koo H Kim SB Choi YC Yoo JH Kim JW Park KD Choi KG Kim SJ Züchner S Chung KW 《Human mutation》2011,32(6):669-677
Both peripheral neuropathy and distal myopathy are well-established inherited neuromuscular disorders characterized by progressive weakness and atrophy of the distal limb muscles. A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss was diagnosed in a large autosomal dominant Korean family. A high density single nucleotide polymorphism (SNP)-based linkage study mapped the underlying gene to a region on chromosome 19q13.3. The maximum multipoint LOD score was 3.794. Sequencing of 34 positional candidate genes in the segregating haplotype revealed a novel c.2822G>T (p.Arg941Leu) mutation in the gene MYH14, which encodes the nonmuscle myosin heavy chain 14. Clinically we observed a sequential pattern of the onset of muscle weakness starting from the anterior to the posterior leg muscle compartments followed by involvement of intrinsic hand and proximal muscles. The hearing loss and hoarseness followed the onset of distal muscle weakness. Histopathologic and electrodiagnostic studies revealed both chronic neuropathic and myopathic features in the affected patients. Although mutations in MYH14 have been shown to cause nonsyndromic autosomal dominant hearing loss (DFNA4), the peripheral neuropathy, myopathy, and hoarseness have not been associated with MYH14. Therefore, we suggest that the identified mutation in MYH14 significantly expands the phenotypic spectrum of this gene. 相似文献
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Young Hwa Kim Hwa Kyung Chung Kee Duk Park Kyoung-Gyu Choi Seung-Min Kim Il-Nam Sunwoo Young-Chul Choi Jeong-Geun Lim Kwang Woo Lee Kwang-Kuk Kim Dong Kuk Lee In Soo Joo Ki-Han Kwon Seok Beom Gwon Jae Hyeon Park Dae-Seong Kim Seung Hyun Kim Woo-Kyung Kim Bum Chun Suh Sang-Beom Kim Nam-Hee Kim Eun Hee Sohn Ok-Joon Kim Hyun Sook Kim Jung Hee Cho Sa-Yoon Kang Chan-Ik Park Jiyoung Oh Jong Hyu Shin Ki Wha Chung Byung-Ok Choi 《JOURNAL OF CLINICAL NEUROLOGY》2012,8(3):241
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