{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:24:38Z","timestamp":1760783078587,"version":"build-2065373602"},"reference-count":13,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1997,5]]},"abstract":"<jats:p>We examined a large consanguineous Druze family with McArdle disease for mutations in the glycogen myophosphorylase (PYGM) gene. All affected subjects were autozygous for a single G to A transition that abolishes the 5' consensus splice site in the first nucleotide of intron 14. The G to A transition is a rare mutation, with only one previous report in a single white subject heterozygous for this mutation and another, more common, mutation at codon 49. The kindred in our study is the first family reported in which disease is caused by homozygosity for this rare mutation. This kindred was originally reported as the first familial case of McArdle disease in the Druze.<\/jats:p>","DOI":"10.1136\/jmg.34.5.391","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"391-394","source":"Crossref","is-referenced-by-count":5,"title":["Homozygosity by descent for a rare mutation in the myophosphorylase gene is associated with variable phenotypes in a Druze family with McArdle disease."],"prefix":"10.1136","volume":"34","author":[{"given":"S","family":"Iyengar","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Kalinsky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Weiss","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Korostishevsky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Sadeh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K K","family":"Kidd","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Bonne-Tamir","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1997,5,1]]},"reference":[{"key":"ref_1","first-page":"1","article-title":"McArdle syndrome (myopathy in muscle phosphorylase deficiency)","volume":"45","author":"Schimrigk, K.; Mertens, H.G.; Ricker, K.; Fuhr, J.; Eyer, P.; Pette, D.","year":"1967","unstructured":"Schimrigk K, Mertens HG, Ricker K, Fuhr J, Eyer P, Pette D. McArdle syndrome (myopathy in muscle phosphorylase deficiency). Klin Wochenschr 1967;45: 1-17.","journal-title":"Klin Wochenschr"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1001\/archneur.1976.00500090042008","article-title":"Dominant inheritance of McArdle's syndrome","volume":"33","author":"Chui, L.A.; Munsat, T.L.","year":"1976","unstructured":"Chui LA, Munsat TL. Dominant inheritance of McArdle's syndrome. Arch Neurol 1976;33:636-41.","journal-title":"Arch Neurol"},{"key":"ref_3","first-page":"177","article-title":"Intron\/exon structure of the human Fiusnoscztyimonei of and glycogen Genetics phosphorylase","volume":"2","author":"Burke, J.; Hwang, P.; Anderson, L.; Lebo, R.; Gorin, F.; Fletterick, R.","year":"1987","unstructured":"Burke J, Hwang P, Anderson L, Lebo R, Gorin F, Fletterick R. Intron\/exon structure of the human Fiusnoscztyimonei of and glycogen Genetics phosphorylase. 1987;2:177-87."},{"key":"ref_4","first-page":"44","article-title":"Three new mutations _Hunt in patients with myophosphorylase deficiency (McArdle disease)","volume":"54","author":"Tsujino, S.; Shanske, S.; Nonaka, I.","year":"1994","unstructured":"Tsujino S, Shanske S, Nonaka I, et al. Three new mutations _Hunt in patients with myophosphorylase deficiency (McArdle disease). Am Genet 1994;54:44-52.","journal-title":"Am Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1093\/hmg\/3.6.1005","article-title":"Two mutations, one novel and one frequently observed in Japanese patients with McArdle's disease","volume":"3","author":"Tsujino, S.; Shanske, S.; Goto, Y.; Nonaka, I.; DiMauro, S.","year":"1994","unstructured":"Tsujino S, Shanske S, Goto Y, Nonaka I, DiMauro S. Two mutations, one novel and one frequently observed in Japanese patients with McArdle's disease. 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Genonics 1992;13:7-15.","journal-title":"Genonics"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1016\/S0888-7543(05)80199-5","article-title":"Regional localization of the highly polymorphic locus DlI S533 on the linkage map of human chromosome 1 lq","volume":"14","author":"Litt, M.; Eubanks, J.H.; Evans, G.A.","year":"1992","unstructured":"Litt M, Eubanks JH, Evans GA. Regional localization of the highly polymorphic locus DlI S533 on the linkage map of human chromosome 1 lq. Genomics 1992;14:820.","journal-title":"Genomics"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"794","DOI":"10.1038\/359794a0","article-title":"A second-generation linkage map of the human genome","volume":"359","author":"Weissenbach, J.; Gyapay, G.; Dib, C.","year":"1992","unstructured":"Weissenbach J, Gyapay G, Dib C, et al. A second-generation linkage map of the human genome. 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