A novel mitofusin 2 gene mutation causing Charcot-Marie-Tooth type 2A disease in a Chinese family
Charcot-Marie-Tooth disease （CMT）, also known as hereditary motor and sensory neuropathies,comprises a genetically heterogeneous group of inherited peripheral neuropathies. Clinically it is characterized by progressive distal weakness, muscle atrophy, distal sensory loss and loss of deep tendon refl...
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| Veröffentlicht in: | Chinese medical journal 2010-06, Vol.123 (11), p.1466-1469 |
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| creator | Ching, Chor Kwan Lau, Kwok Kwong Yu, Kwok Wai Chan, Yan Wo Albert Mak, Miu Chloe |
| description | Charcot-Marie-Tooth disease （CMT）, also known as hereditary motor and sensory neuropathies,comprises a genetically heterogeneous group of inherited peripheral neuropathies. Clinically it is characterized by progressive distal weakness, muscle atrophy, distal sensory loss and loss of deep tendon reflexes. Following electrophysiological criteria, CMT is divided into two main forms： |
| doi_str_mv | 10.3760/cma.j.issn.0366-6999.2010.11.022 |
| format | Article |
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Clinically it is characterized by progressive distal weakness, muscle atrophy, distal sensory loss and loss of deep tendon reflexes. Following electrophysiological criteria, CMT is divided into two main forms：</description><identifier>ISSN: 0366-6999</identifier><identifier>EISSN: 2542-5641</identifier><identifier>DOI: 10.3760/cma.j.issn.0366-6999.2010.11.022</identifier><identifier>PMID: 20819609</identifier><language>eng</language><publisher>China: Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong, China%Department of Medicine and Geriatrics, Princess Margaret Hospital, Hong Kong, China</publisher><subject>Adult ; Charcot-Marie-Tooth Disease - etiology ; Charcot-Marie-Tooth Disease - genetics ; Female ; GTP Phosphohydrolases ; Humans ; Membrane Proteins - genetics ; Mitochondrial Proteins - genetics ; Mutation ; Sequence Analysis, DNA ; 基因突变 ; 感觉神经 ; 肌肉萎缩 ; 萎缩症 ; 遗传异质性</subject><ispartof>Chinese medical journal, 2010-06, Vol.123 (11), p.1466-1469</ispartof><rights>Copyright © Wanfang Data Co. Ltd. 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Clinically it is characterized by progressive distal weakness, muscle atrophy, distal sensory loss and loss of deep tendon reflexes. 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Lau, Kwok Kwong ; Yu, Kwok Wai ; Chan, Yan Wo Albert ; Mak, Miu Chloe</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c268t-8c89e95f91c4180ea5dc351a68e67d664b79fc68dbb504fa946db20283e019623</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2010</creationdate><topic>Adult</topic><topic>Charcot-Marie-Tooth Disease - etiology</topic><topic>Charcot-Marie-Tooth Disease - genetics</topic><topic>Female</topic><topic>GTP Phosphohydrolases</topic><topic>Humans</topic><topic>Membrane Proteins - genetics</topic><topic>Mitochondrial Proteins - genetics</topic><topic>Mutation</topic><topic>Sequence Analysis, DNA</topic><topic>基因突变</topic><topic>感觉神经</topic><topic>肌肉萎缩</topic><topic>萎缩症</topic><topic>遗传异质性</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ching, Chor Kwan</creatorcontrib><creatorcontrib>Lau, Kwok Kwong</creatorcontrib><creatorcontrib>Yu, Kwok Wai</creatorcontrib><creatorcontrib>Chan, Yan Wo Albert</creatorcontrib><creatorcontrib>Mak, Miu Chloe</creatorcontrib><collection>中文科技期刊数据库</collection><collection>中文科技期刊数据库-CALIS站点</collection><collection>中文科技期刊数据库-7.0平台</collection><collection>中文科技期刊数据库-自然科学</collection><collection>中文科技期刊数据库-自然科学-生物科学</collection><collection>中文科技期刊数据库- 镜像站点</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><collection>Wanfang Data Journals - Hong Kong</collection><collection>WANFANG Data Centre</collection><collection>Wanfang Data Journals</collection><collection>万方数据期刊 - 香港版</collection><collection>China Online Journals (COJ)</collection><collection>China Online Journals (COJ)</collection><jtitle>Chinese medical journal</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ching, Chor Kwan</au><au>Lau, Kwok Kwong</au><au>Yu, Kwok Wai</au><au>Chan, Yan Wo Albert</au><au>Mak, Miu Chloe</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A novel mitofusin 2 gene mutation causing Charcot-Marie-Tooth type 2A disease in a Chinese family</atitle><jtitle>Chinese medical journal</jtitle><addtitle>Chinese Medical Journal</addtitle><date>2010-06</date><risdate>2010</risdate><volume>123</volume><issue>11</issue><spage>1466</spage><epage>1469</epage><pages>1466-1469</pages><issn>0366-6999</issn><eissn>2542-5641</eissn><abstract>Charcot-Marie-Tooth disease （CMT）, also known as hereditary motor and sensory neuropathies,comprises a genetically heterogeneous group of inherited peripheral neuropathies. Clinically it is characterized by progressive distal weakness, muscle atrophy, distal sensory loss and loss of deep tendon reflexes. Following electrophysiological criteria, CMT is divided into two main forms：</abstract><cop>China</cop><pub>Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong, China%Department of Medicine and Geriatrics, Princess Margaret Hospital, Hong Kong, China</pub><pmid>20819609</pmid><doi>10.3760/cma.j.issn.0366-6999.2010.11.022</doi><tpages>4</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0366-6999 |
| ispartof | Chinese medical journal, 2010-06, Vol.123 (11), p.1466-1469 |
| issn | 0366-6999 2542-5641 |
| language | eng |
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| source | MEDLINE; DOAJ Directory of Open Access Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals |
| subjects | Adult Charcot-Marie-Tooth Disease - etiology Charcot-Marie-Tooth Disease - genetics Female GTP Phosphohydrolases Humans Membrane Proteins - genetics Mitochondrial Proteins - genetics Mutation Sequence Analysis, DNA 基因突变 感觉神经 肌肉萎缩 萎缩症 遗传异质性 |
| title | A novel mitofusin 2 gene mutation causing Charcot-Marie-Tooth type 2A disease in a Chinese family |
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