{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:13:43Z","timestamp":1788221623205,"version":"build-2803163510"},"reference-count":25,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1994,6]]},"abstract":"<jats:p>Sixty-seven patients in 29 families with the diagnosis of Charcot-Marie-Tooth disease or hereditary motor and sensory neuropathy in northern Sweden were examined by pedigree and DNA analysis for the CMT1a duplication within chromosome 17p11.2. There were 39 patients in nine families with Charcot-Marie-Tooth type 1 and autosomal dominant inheritance and in all these cases the duplication was seen. In six patients in three families with Charcot-Marie-Tooth type 1 the pedigrees strongly suggested autosomal recessive inheritance. In two patients DNA analysis was not informative but in the others no duplication was shown. There were also 11 \"sporadic\" patients and one pair of sibs classified as Charcot-Marie-Tooth type 1, but there was no duplication shown although in four patients DNA analysis was not informative. In nine patients with Charcot-Marie-Tooth type 2 from five families and in 13 unaffected relatives of Charcot-Marie-Tooth patients the CMT1a duplication was not found.<\/jats:p>","DOI":"10.1136\/jmg.31.6.435","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"435-441","source":"Crossref","is-referenced-by-count":12,"title":["Charcot-Marie-Tooth disease in northern Sweden: pedigree analysis and the presence of the duplication in chromosome 17p11.2."],"prefix":"10.1136","volume":"31","author":[{"given":"B H","family":"Holmberg","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Holmgren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Nelis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"van Broeckhoven","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Westerberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1994,6,1]]},"reference":[{"key":"ref_1","first-page":"1600","article-title":"Inherited neuronal degeneration and atrophy affecting peripheral motor, sensory and autonomic neurons","volume-title":"Perripher-al nieuropathv","author":"Dyck, P.J.","year":"1984","unstructured":"Dyck PJ. Inherited neuronal degeneration and atrophy affecting peripheral motor, sensory and autonomic neurons. In: Dyck PJ, Thomas PK, Lambert EH, Bunge R, cds. Perripher-al nieuropathv. 2nd ed. Philadelphia: Saunders, 1984:1600-42.","edition":"2nd ed"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1136\/jnnp.37.1.68","article-title":"Motor nerve conduction velocity in peroneal muscular atrophy: evidence for genetic heterogeneity","volume":"37","author":"Thomas, P.K.; Calne, D.B.","year":"1974","unstructured":"Thomas PK, Calne DB. Motor nerve conduction velocity in peroneal muscular atrophy: evidence for genetic heterogeneity. J Neraol Neirosurg PsYchiatrY 1974;37:68-75.","journal-title":"J Neraol Neirosurg PsYchiatrY"},{"key":"ref_3","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, A.E.; Thomas, P.K.","year":"1980","unstructured":"Harding AE, Thomas PK. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 1980;103:259-80.","journal-title":"Brain"},{"key":"ref_4","first-page":"1","article-title":"Clinical and electrodiagnostic feature of Charcot-Marie-Tooth syndrome","volume":"58","author":"Brust, J.; Lovelace, R.; Devi, S.","year":"1978","unstructured":"Brust J, Lovelace R, Devi S. Clinical and electrodiagnostic feature of Charcot-Marie-Tooth syndrome. Acta Neiral Scanid Sluppl 1978;58:1-42.","journal-title":"Acta Neiral Scanid Sluppl"},{"key":"ref_5","first-page":"311","article-title":"The peroneal muscular atrophy syndrome. Clinical, genetic, electrophysiological and ncrve biopsy studies. I. Clinical, gcnetic and elcctrophysiological findings and classification","volume":"26","author":"Davis, C.J.F.; Bradley, W.G.; Madrid, R.","year":"1978","unstructured":"Davis CJF, Bradley WG, Madrid R. The peroneal muscular atrophy syndrome. Clinical, genetic, electrophysiological and ncrve biopsy studies. I. Clinical, gcnetic and elcctrophysiological findings and classification. 7 Gent Hiun 1978;26:311-49.","journal-title":"7 Gent Hiun"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/0960-8966(93)90045-L","article-title":"Diagnostic criteria for autosomal dominanit hereditary motor and sensory neuropathy type la","volume":"3","author":"M, De Visser","year":"1993","unstructured":"De Visser M. Diagnostic criteria for autosomal dominanit hereditary motor and sensory neuropathy type la. Neiuro,nIIusc Dis 1993;3:77-9.","journal-title":"Neiuro, nIIusc Dis"},{"key":"ref_7","first-page":"19","article-title":"Population frequencies of inherited neuromuscular diseases - a world survev","volume":"1","author":"Emery, A.E.H.","year":"1991","unstructured":"Emery AEH. Population frequencies of inherited neuromuscular diseases - a world survev. Neuroinuisc l)is 1991;1:19-29.","journal-title":"Neuroinuisc l)is"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1111\/j.1600-0404.1993.tb04127.x","article-title":"Charcot-Marie-Tooth disease in northern Swcden - an epidemiological and clinical study","volume":"87","author":"Holmberg, B.H.","year":"1993","unstructured":"Holmberg BH. Charcot-Marie-Tooth disease in northern Swcden - an epidemiological and clinical study. Acta Neuirol Scand 1993;87:416-22.","journal-title":"Acta Neuirol Scand"},{"key":"ref_9","first-page":"388","article-title":"Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1. Ani","volume":"34","author":"Bird, T.D.; Ott, J.; Giblett, E.R.","year":"1982","unstructured":"Bird TD, Ott J, Giblett ER. Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1. Ani ] Huon Geniet 1982;34:388-94.","journal-title":"Huon Geniet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1016\/0888-7543(91)90355-I","article-title":"Localization of Charcot-Marie-Tooth disease type la (CMT1A) to chromosome 17pl 1.2","volume":"9","author":"Vance, J.; Barker, D.; Yamaoka, L.","year":"1991","unstructured":"Vance J, Barker D, Yamaoka L, et al. Localization of Charcot-Marie-Tooth disease type la (CMT1A) to chromosome 17pl 1.2. Genomiics 1991;9:623-8.","journal-title":"Genomiics"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/0092-8674(91)90613-4","article-title":"DNA duplication associated with Charcot-Marie-Tooth disease type IA","volume":"66","author":"Lupski, J.; Montes de Oca-Luna, R.; Slangenhaupt, S.","year":"1991","unstructured":"Lupski J, Montes de Oca-Luna R, Slangenhaupt S, et al. DNA duplication associated with Charcot-Marie-Tooth disease type IA. Cell 1991;66:219-32.","journal-title":"Cell"},{"key":"ref_12","first-page":"5","article-title":"Estimation of the size of the chromosome 17pl1.2 duplication in Charcot-Marie-Tooth neuropathv tvpe","volume-title":"ia (CMTla).. Med Genet","volume":"29","author":"Raeymaekers, P.; Timmerman, V.; Nelis, E.","year":"1992","unstructured":"Raeymaekers P, Timmerman V, Nelis E, et al. Estimation of the size of the chromosome 17pl1.2 duplication in Charcot-Marie-Tooth neuropathv tvpe ia (CMTla).. Med Genet 1992;29:5-1 1."},{"key":"ref_13","first-page":"241","article-title":"Trembler mouse carries a point mutation in a myelin gene","volume":"356","author":"Suter, U.; Welcher, A.; Ozcelik, T.","year":"1992","unstructured":"Suter U, Welcher A, Ozcelik T, et al. Trembler mouse carries a point mutation in a myelin gene. Natuire 1992;356:241-4. Charcot-Marie-Tooth disease in niorthern Sweden: pedigree analysis and the presence of the duplication in chromlosome 17pll.2","journal-title":"Natuire; Charcot-Marie-Tooth disease in niorthern Sweden: pedigree analysis and the presence of the duplication in chromlosome 17pll.2"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1038\/ng0692-159","article-title":"The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-MarieTooth disease type","volume":"1","author":"Patel, P.; Roa, B.; Welcher, A.","year":"1992","unstructured":"Patel P, Roa B, Welcher A, et al. 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Nature Genet 1992;1:166-70.","journal-title":"Nature Genet"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1038\/ng0692-171","article-title":"The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type LA duplication","volume":"1","author":"Timmerman, V.; Nelis, E.; Van Hul, W.","year":"1992","unstructured":"Timmerman V, Nelis E, Van Hul W, et al. The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type LA duplication. Nature Genet 1992;1:171-5.","journal-title":"Nature Genet"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1038\/ng0692-176","article-title":"Peripheral myelin protein-22 gene maps in the duplication in chromosome 17pll.2 associated with Charcot-Marie-Tooth LA","volume":"1","author":"Matsunami, N.; Smith, B.; Ballard, L.","year":"1992","unstructured":"Matsunami N, Smith B, Ballard L, et al. Peripheral myelin protein-22 gene maps in the duplication in chromosome 17pll.2 associated with Charcot-Marie-Tooth LA. Nature Genet 1992;1:176-9.","journal-title":"Nature Genet"},{"key":"ref_18","first-page":"419","article-title":"Minimal pathologic expression of a mutant gene for hereditary motor and sensory","volume-title":"neuropathy. Mayo ClGn Proc 1983; 58","author":"Dyck, P.J.; Karnes, J.L.; Windebank, A.J.; Sparks, M.; Clarkestevens, J.; O'Brien, P.C.","unstructured":"Dyck PJ, Karnes JL, Windebank AJ, Sparks M, Clarkestevens J, O'Brien PC. Minimal pathologic expression of a mutant gene for hereditary motor and sensory neuropathy. Mayo ClGn Proc 1983;58:419-25."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1136\/jnnp.43.8.669","article-title":"Autosomal recessive forms of hereditary motor and sensory neuropathy","volume":"43","author":"Harding, A.E.; Thomas, P.K.","year":"1980","unstructured":"Harding AE, Thomas PK. Autosomal recessive forms of hereditary motor and sensory neuropathy. _7 Neurol Neurosurg Psychiatry 1980;43:669-78.","journal-title":"_7 Neurol Neurosurg Psychiatry"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"1081","DOI":"10.1016\/0140-6736(92)90668-S","article-title":"De-novo mutation in hereditary motor and sensory neuropathy type","volume":"339","author":"Hoogendijk, J.E.; Hensels, G.W.; Gabreels-Festen, A.A.","year":"1992","unstructured":"Hoogendijk JE, Hensels GW, Gabreels-Festen AA, et al. De-novo mutation in hereditary motor and sensory neuropathy type I. Lancet 1992;339:1081-2.","journal-title":"I. Lancet"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1111\/j.1601-5223.1982.tb00723.x","article-title":"A family with Charcot-Marie-Tooth disease showing a probable X-linked incompletely dominant inheritance","volume":"97","author":"Iselius, L.; Grimby, L.","year":"1982","unstructured":"Iselius L, Grimby L. A family with Charcot-Marie-Tooth disease showing a probable X-linked incompletely dominant inheritance. Hereditas 1982;97:157-8.","journal-title":"Hereditas"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"1460","DOI":"10.1212\/WNL.37.9.1460","article-title":"Hereditary motor and sensory neuropathy, X-linked: a half century follow up","volume":"37","author":"Rozear, M.P.; Pericak-Vance, M.A.; Fishbeck, K.","year":"1987","unstructured":"Rozear MP, Pericak-Vance MA, Fishbeck K, et al. Hereditary motor and sensory neuropathy, X-linked: a half century follow up. Neurology 1987;37:1460-5.","journal-title":"Neurology"},{"key":"ref_23","article-title":"Molecular cloninlg: a laboratory nanual","author":"Sambrook, J.; Fritsch, E.F.; Maniatis, T.","year":"1989","unstructured":"Sambrook J, Fritsch EF, Maniatis T. Molecular cloninlg: a laboratory nanual. 2nd ed. Cold Spring Harbor, New York: Cold Spring Harbor Laboratory Press, 1989.","edition":"2nd ed"},{"key":"ref_24","first-page":"6","article-title":"Neuropediatric aspects of hereditariy peripheral neuropathy int childhood","author":"Westerberg, B.","year":"1982","unstructured":"Westerberg B. Neuropediatric aspects of hereditariy peripheral neuropathy int childhood. MD thesis, University of Gothenberg, 1982:6-36."},{"key":"ref_25","first-page":"121","article-title":"The hypertrophic forms of hereditary motor and sensory neuropathy. A study of hypertrophic Charcot-Marie-Tooth disease (HMSN type I) and Dejerine-Sottas disease (HMSN type III) in childhood","volume":"100","author":"Otuvrier, R.; McLeod, J.; Conchin, T.","year":"1987","unstructured":"Otuvrier R, McLeod J, Conchin T. The hypertrophic forms of hereditary motor and sensory neuropathy. A study of hypertrophic Charcot-Marie-Tooth disease (HMSN type I) and Dejerine-Sottas disease (HMSN type III) in childhood. Brain 1987;100:121-48.","journal-title":"Brain"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.31.6.435","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T18:20:54Z","timestamp":1760725254000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.31.6.435"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,6]]},"references-count":25,"journal-issue":{"issue":"6","published-online":{"date-parts":[[1994,6,1]]},"published-print":{"date-parts":[[1994,6]]}},"alternative-id":["10.1136\/jmg.31.6.435"],"URL":"https:\/\/doi.org\/10.1136\/jmg.31.6.435","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,6]]}}}