{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T19:10:46Z","timestamp":1759691446459,"version":"build-2065373602"},"reference-count":7,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1997,6]]},"abstract":"<jats:p>The spinal form of Charcot-Marie-Tooth disease (spinal CMT) is a rare genetic disorder of the peripheral nervous system, the genetic basis of which remains unknown. To test the hypothesis that a defect of survival motor neuron (SMN), the determining gene for spinal muscular atrophy (SMA), would result in spinal CMT, 18 unrelated spinal CMT patients were studied. Nine of them were sporadic cases and the other nine belonged to unrelated autosomal dominant pedigrees. None of the 18 patients showed deletions involving SMN exons 7 or 8, the most frequent gene alteration found in SMA. In addition, haplotype analysis in two large autosomal dominant pedigrees showed that the 5q13 locus was not segregating with the spinal CMT locus. Therefore, neither the sporadic nor the familial cases of spinal CMT are associated with a SMN gene deletion, nor are the familial cases linked to the 5q13 region, indicating that this neuropathy is genetically different from SMA.<\/jats:p>","DOI":"10.1136\/jmg.34.6.507","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"507-508","source":"Crossref","is-referenced-by-count":6,"title":["SMN gene analysis of the spinal form of Charcot-Marie-Tooth disease."],"prefix":"10.1136","volume":"34","author":[{"given":"A","family":"Hanash","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Leguern","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N","family":"Birouk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O","family":"Clermont","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Pouget","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Bouche","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Munnich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Brice","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Melki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1997,6,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1016\/0022-510X(80)90177-X","article-title":"Hereditary distal spinal muscular atrophy: report on 34 cases and a review of the literature","volume":"45","author":"Harding, A.E.; Thomas, P.K.","year":"1980","unstructured":"Harding AE, Thomas PK. Hereditary distal spinal muscular atrophy: report on 34 cases and a review of the literature. J Neurol Sci 1980;45:337-48.","journal-title":"J Neurol Sci"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1065","DOI":"10.1093\/hmg\/5.7.1065","article-title":"Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24","volume":"5","author":"Timmerman, V.; De Jonghe, P.; Simokovic, S.","year":"1996","unstructured":"Timmerman V, De Jonghe P, Simokovic S, et al. Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24. 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Deletions in the survival motor neuron gene on 5q 13 in autosomal recessive spinal muscular atrophy. Hun Mol Genet 1995;4:631-4.","journal-title":"Hun Mol Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1016\/S0140-6736(95)92206-7","article-title":"SMN gene deletion in variant of infantile spinal muscular atrophy","volume":"346","author":"Burglen, L.; Spiegel, R.; Ignatius, J.","year":"1995","unstructured":"Burglen L, Spiegel R, Ignatius J, et al. SMN gene deletion in variant of infantile spinal muscular atrophy. Lanicet 1995;346:316-17.","journal-title":"Lanicet"},{"key":"ref_6","article-title":"Isolation and chromosomal assignment of 100 highly informative human 6s2i2m-p9l.e sequence repeat polymorphisms. Genomics 1992; 13: 12 Melki","volume-title":"novo and inherited dSceileentcieon1s9o9f4; t2h6e4: 51q41734-r7e.gion in spinal muscular atrophies","author":"Hudson, T.J.; Engelstein, M.; Lee, M.K.","unstructured":"Hudson TJ, Engelstein M, Lee MK, et al. Isolation and chromosomal assignment of 100 highly informative human 6s2i2m-p9l.e sequence repeat polymorphisms. Genomics 1992;13: 12 Melki J, Lefebvre S, Biirglen L, et al. De novo and inherited dSceileentcieon1s9o9f4;t2h6e4:51q41734-r7e.gion in spinal muscular atrophies."},{"key":"ref_7","first-page":"183","article-title":"A genetic linkage map of human chromosome 20 composed entirely of microsatellite markers","volume":"12","author":"Hazan, J.; Dubay, C.; Pankowiak, M.P.","year":"1992","unstructured":"Hazan J, Dubay C, Pankowiak MP, et al. A genetic linkage map of human chromosome 20 composed entirely of microsatellite markers. 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