{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T18:58:09Z","timestamp":1790794689187,"version":"4.1.0"},"reference-count":17,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1978,12]]},"abstract":"<jats:p>An analysis of segregation and sex ratios, and of sex influence, was undertaken in a series of 78 index patients with acute infantile spinal muscular atrophy (SMA type I). The sex ratio of index patients was 2.0, and the excess of males was shown to occur principally among sporadic cases. The sex ratio of familial cases did not differ significantly from 1.0. The implications of this are discussed. No sex influence on age at onset, or on life expectancy, was present. The segregation ratio (Weinberg Proband method) was 0.29 for all index cases, and 0.26 for all cases excluding those referred specifically to a genetic counselling clinic. Autosomal recessivity is confirmed for this disease, with the probable inclusion of unrecognised male phenocopies in clinical series.<\/jats:p>","DOI":"10.1136\/jmg.15.6.414","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"414-417","source":"Crossref","is-referenced-by-count":28,"title":["Genetic studies of acute infantile spinal muscular atrophy (SMA type I). An analysis of sex ratios, segregation ratios, and sex influence."],"prefix":"10.1136","volume":"15","author":[{"given":"J","family":"Pearn","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1978,12,1]]},"reference":[{"key":"ref_1","first-page":"112","author":"Armitage, P.","year":"1971","unstructured":"Armitage, P. (1971). Statistical Methods in Medical Research, 1st ed., pp. 112-114. Blackwell, Oxford.","edition":"1st ed","journal-title":"Statistical Methods in Medical Research"},{"key":"ref_2","first-page":"100","article-title":"Werdnig-Hoffmann's Infantile Progressive MuscularAtrophy","author":"Brandt, S.","year":"1950","unstructured":"Brandt, S. (1950a). Werdnig-Hoffmann's Infantile Progressive MuscularAtrophy, p. 100."},{"key":"ref_3","first-page":"98","article-title":"Werdnig-Hoffmann's Infantile Progressive Muscular Atrophy","author":"Brandt, S.","year":"1950","unstructured":"Brandt, S. (1950b). Werdnig-Hoffmann's Infantile Progressive Muscular Atrophy, p. 98. Munksgaard, Copenhagen."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1093\/brain\/98.3.455","article-title":"A clinical and genetic study of chronic proximal spinal muscular atrophy","volume":"98","author":"Bundey, S.; Lovelace, R.E.","year":"1975","unstructured":"Bundey, S., and Lovelace, R. E. (1975). A clinical and genetic study of chronic proximal spinal muscular atrophy. Brain, 98, 455-472.","journal-title":"Brain"},{"key":"ref_5","first-page":"8","article-title":"Review. The nosology of the spinal muscular atrophies","author":"Emery, A.E.H.","year":"1971","unstructured":"Emery, A. E. H. (1971). Review. The nosology of the spinal muscular atrophies. 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