{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T07:26:59Z","timestamp":1791098819217,"version":"4.1.0"},"reference-count":36,"publisher":"Elsevier BV","issue":"8","license":[{"start":{"date-parts":[[2008,8,1]],"date-time":"2008-08-01T00:00:00Z","timestamp":1217548800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2008,8,1]],"date-time":"2008-08-01T00:00:00Z","timestamp":1217548800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2008,8]]},"DOI":"10.1016\/j.nmd.2008.05.012","type":"journal-article","created":{"date-parts":[[2008,7,8]],"date-time":"2008-07-08T06:51:12Z","timestamp":1215499872000},"page":"610-618","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":89,"title":["Different clinical and magnetic resonance imaging features between Charcot\u2013Marie\u2013Tooth disease type 1A and 2A"],"prefix":"10.1016","volume":"18","author":[{"given":"K.W.","family":"Chung","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.C.","family":"Suh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.E.","family":"Shy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.Y.","family":"Cho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.H.","family":"Yoo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.W.","family":"Park","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Moon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.D.","family":"Park","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.G.","family":"Choi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.B.","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.S.","family":"Shim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.M.","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.N.","family":"Sunwoo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.O.","family":"Choi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2008.05.012_bib1","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1093\/brain\/103.2.259","article-title":"The clinical features of hereditary motor and sensory neuropathy types I and II","volume":"103","author":"Harding","year":"1980","journal-title":"Brain"},{"key":"10.1016\/j.nmd.2008.05.012_bib2","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1212\/WNL.41.4.547","article-title":"Penetrance of the hereditary motor and sensory neuropathy Ia mutation: assessment by nerve conduction studies","volume":"41","author":"Nicholson","year":"1991","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2008.05.012_bib3","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1016\/S1474-4422(02)00042-X","article-title":"Hereditary motor and sensory neuropathies: a biological perspective","volume":"1","author":"Shy","year":"2002","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.nmd.2008.05.012_bib4","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1038\/ng1341","article-title":"Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot\u2013Marie\u2013Tooth neuropathy type 2A","volume":"36","author":"Z\u00fcchner","year":"2004","journal-title":"Nat Genet"},{"key":"10.1016\/j.nmd.2008.05.012_bib5","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1097\/01.gim.0000200160.29385.73","article-title":"Charcot\u2013Marie\u2013Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management","volume":"8","author":"Szigeti","year":"2006","journal-title":"Genet Med"},{"key":"10.1016\/j.nmd.2008.05.012_bib6","doi-asserted-by":"crossref","first-page":"2093","DOI":"10.1093\/brain\/awl126","article-title":"MFN2 mutation distribution and genotype\/phenotype correlation in Charcot\u2013Marie\u2013Tooth type 2","volume":"129","author":"Verhoeven","year":"2006","journal-title":"Brain"},{"key":"10.1016\/j.nmd.2008.05.012_bib7","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/0092-8674(91)90613-4","article-title":"DNA duplication associated with Charcot\u2013Marie\u2013Tooth disease type 1A","volume":"66","author":"Lupski","year":"1991","journal-title":"Cell"},{"key":"10.1016\/j.nmd.2008.05.012_bib8","doi-asserted-by":"crossref","first-page":"1516","DOI":"10.1093\/brain\/123.7.1516","article-title":"Neurological dysfunction and axonal degeneration in Charcot\u2013Marie\u2013Tooth disease type 1A","volume":"123","author":"Krajewski","year":"2000","journal-title":"Brain"},{"key":"10.1016\/j.nmd.2008.05.012_bib9","doi-asserted-by":"crossref","first-page":"1663","DOI":"10.1242\/jcs.115.8.1663","article-title":"Membrane topology and mitochondrial targeting of mitofusins, ubiquitous mammalian homologs of the transmembrane GTPase Fzo","volume":"115","author":"Rojo","year":"2002","journal-title":"J Cell Sci"},{"key":"10.1016\/j.nmd.2008.05.012_bib10","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1083\/jcb.200211046","article-title":"Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development","volume":"160","author":"Chen","year":"2003","journal-title":"J Cell Biol"},{"key":"10.1016\/j.nmd.2008.05.012_bib11","doi-asserted-by":"crossref","first-page":"858","DOI":"10.1126\/science.1099793","article-title":"Structural basis of mitochondrial tethering by mitofusin complexes","volume":"305","author":"Koshiba","year":"2004","journal-title":"Science"},{"key":"10.1016\/j.nmd.2008.05.012_bib12","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1523\/JNEUROSCI.4798-06.2007","article-title":"Altered axonal mitochondrial transport in the pathogenesis of Charcot\u2013Marie\u2013Tooth disease from mitofusin 2 mutations","volume":"27","author":"Baloh","year":"2007","journal-title":"J Neurosci"},{"key":"10.1016\/j.nmd.2008.05.012_bib13","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1002\/ana.20797","article-title":"Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2","volume":"59","author":"Z\u00fcchner","year":"2006","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2008.05.012_bib14","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1093\/brain\/120.3.465","article-title":"The phenotypic manifestations of chromosome 17p11.2 duplication","volume":"120","author":"Thomas","year":"1997","journal-title":"Brain"},{"key":"10.1016\/j.nmd.2008.05.012_bib15","doi-asserted-by":"crossref","first-page":"2103","DOI":"10.1093\/brain\/awl174","article-title":"Early onset severe and late-onset mild Charcot\u2013Marie\u2013Tooth disease with mitofusin 2 (MFN2) mutations","volume":"129","author":"Chung","year":"2006","journal-title":"Brain"},{"key":"10.1016\/j.nmd.2008.05.012_bib16","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1148\/radiology.187.1.8451416","article-title":"Denervated human skeletal muscle: MR imaging evaluation","volume":"187","author":"Fleckenstein","year":"1993","journal-title":"Radiology"},{"key":"10.1016\/j.nmd.2008.05.012_bib17","doi-asserted-by":"crossref","first-page":"S295","DOI":"10.1148\/radiographics.20.suppl_1.g00oc18s295","article-title":"Abnormal signal intensity in skeletal muscle at MR imaging: patterns, pearls, and pitfalls","volume":"20","author":"May","year":"2000","journal-title":"Radiographics"},{"key":"10.1016\/j.nmd.2008.05.012_bib18","doi-asserted-by":"crossref","first-page":"1013","DOI":"10.1016\/S0033-8389(02)00049-0","article-title":"MR imaging in nonneoplastic muscle disorders of the lower extremity","volume":"40","author":"Farber","year":"2002","journal-title":"Radiol Clin North Am"},{"key":"10.1016\/j.nmd.2008.05.012_bib19","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1016\/S1067-2516(09)80083-5","article-title":"Patterns of muscle atrophy in the lower limbs in patients with Charcot\u2013Marie\u2013Tooth disease as measured by magnetic resonance imaging","volume":"34","author":"Stilwell","year":"1995","journal-title":"J Foot Ankle Surg"},{"key":"10.1016\/j.nmd.2008.05.012_bib20","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1093\/brain\/awh693","article-title":"Charcot\u2013Marie\u2013Tooth disease type 1A duplication: spectrum of clinical and magnetic resonance imaging features in leg and foot muscles","volume":"129","author":"Gallardo","year":"2006","journal-title":"Brain"},{"key":"10.1016\/j.nmd.2008.05.012_bib21","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1097\/01241398-199313050-00017","article-title":"Computed tomographic analysis of pes cavus","volume":"13","author":"Price","year":"1993","journal-title":"J Pediatr Orthop"},{"key":"10.1016\/j.nmd.2008.05.012_bib22","doi-asserted-by":"crossref","first-page":"1572","DOI":"10.1007\/s00415-006-0260-6","article-title":"Comparison of CMT1A and CMT2: similarities and differences","volume":"253","author":"Bienfait","year":"2006","journal-title":"J Neurol"},{"key":"10.1016\/j.nmd.2008.05.012_bib23","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/S1016-8478(23)07387-9","article-title":"Rapid diagnosis of CMT1A duplications and HNPP deletions by multiplex microsatellite PCR","volume":"23","author":"Choi","year":"2007","journal-title":"Mol Cells"},{"key":"10.1016\/j.nmd.2008.05.012_bib24","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1093\/brain\/120.5.813","article-title":"Charcot\u2013Marie\u2013Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases","volume":"120","author":"Birouk","year":"1997","journal-title":"Brain"},{"key":"10.1016\/j.nmd.2008.05.012_bib25","doi-asserted-by":"crossref","first-page":"1209","DOI":"10.1212\/01.WNL.0000156517.00615.A3","article-title":"Reliability and validity of the CMT neuropathy score as a measure of disability","volume":"64","author":"Shy","year":"2005","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2008.05.012_bib26","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1097\/00003086-199407000-00014","article-title":"Fatty muscle degeneration in cuff ruptures. Pre- and postoperative evaluation by CT scan","volume":"304","author":"Goutallier","year":"1994","journal-title":"Clin Orthop Relat Res"},{"key":"10.1016\/j.nmd.2008.05.012_bib27","unstructured":"Davies MS. Foot and ankle. In: Standring S, editor. Gray\u2019s anatomy. London: Elsevier Churchill Livingston; 2005. p. 1507\u201345."},{"key":"10.1016\/j.nmd.2008.05.012_bib28","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1093\/brain\/118.3.809","article-title":"From the syndrome of Charcot, Marie and Tooth to disorders of peripheral myelin proteins","volume":"118","author":"Harding","year":"1995","journal-title":"Brain"},{"key":"10.1016\/j.nmd.2008.05.012_bib29","doi-asserted-by":"crossref","first-page":"2451","DOI":"10.1016\/j.jbiomech.2004.10.020","article-title":"Spatial fiber type distribution in normal human muscle Histochemical and tensiomyographical evaluation","volume":"38","author":"Dahmane","year":"2005","journal-title":"J Biomech"},{"key":"10.1016\/j.nmd.2008.05.012_bib30","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1016\/0012-1606(78)90229-4","article-title":"Myogenic and neurogenic contributions to the development of fast and slow twitch muscles in rat","volume":"62","author":"Rubinstein","year":"1978","journal-title":"Dev Biol"},{"key":"10.1016\/j.nmd.2008.05.012_bib31","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1016\/0022-510X(76)90001-0","article-title":"Adaptive transformation of rat soleus motor units during growth","volume":"27","author":"Kugelberg","year":"1976","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.nmd.2008.05.012_bib32","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1083\/jcb.90.1.128","article-title":"Development of muscle fiber specialization in the rat hindlimb","volume":"90","author":"Rubinstein","year":"1981","journal-title":"J Cell Biol"},{"key":"10.1016\/j.nmd.2008.05.012_bib33","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1093\/brain\/100.1.41","article-title":"Peroneal muscular atrophy (PMA) and related disorders. I. Clinical manifestations as related to biopsy findings, nerve conduction and electromyography","volume":"100","author":"Buchthal","year":"1977","journal-title":"Brain"},{"key":"10.1016\/j.nmd.2008.05.012_bib34","doi-asserted-by":"crossref","first-page":"1658","DOI":"10.1212\/01.wnl.0000263479.97552.94","article-title":"Phenotype of Charcot\u2013Marie\u2013Tooth disease Type 2","volume":"68","author":"Bienfait","year":"2007","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2008.05.012_bib35","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1002\/mus.10299","article-title":"Initial semiology in children with Charcot\u2013Marie\u2013Tooth disease","volume":"27","author":"Berciano","year":"2003","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.nmd.2008.05.012_bib36","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1212\/WNL.50.4.1061","article-title":"Charcot\u2013Marie\u2013Tooth disease type 1A with 17p duplication in early infancy and childhood. A longitudinal clinical and electrophysiological study","volume":"50","author":"Garc\u00eda","year":"1998","journal-title":"Neurology"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896608001508?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896608001508?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:56:05Z","timestamp":1760774165000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896608001508"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,8]]},"references-count":36,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2008,8]]}},"alternative-id":["S0960896608001508"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2008.05.012","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2008,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Different clinical and magnetic resonance imaging features between Charcot\u2013Marie\u2013Tooth disease type 1A and 2A","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2008.05.012","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2008 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}