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Journal Abstract Search

139 related items for PubMed ID: 2840818

  • 1. Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene.
    Darras BT, Francke U.
    Am J Hum Genet; 1988 Aug; 43(2):126-30. PubMed ID: 2840818
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  • 3. Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutations.
    Darras BT, Blattner P, Harper JF, Spiro AJ, Alter S, Francke U.
    Am J Hum Genet; 1988 Nov; 43(5):620-9. PubMed ID: 2903663
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  • 5. Characterization of patients with glycerol kinase deficiency utilizing cDNA probes for the Duchenne muscular dystrophy locus.
    Towbin JA, Wu DR, Chamberlain J, Larsen PD, Seltzer WK, McCabe ER.
    Hum Genet; 1989 Sep; 83(2):122-6. PubMed ID: 2550352
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  • 6. A rare co-occurrence of duchenne muscular dystrophy, congenital adrenal hypoplasia and glycerol kinase deficiency due to Xp21 contiguous gene deletion syndrome: case report.
    Rathnasiri A, Senarathne U, Arunath V, Hoole T, Kumarasiri I, Muthukumarana O, Jasinge E, Mettananda S.
    BMC Endocr Disord; 2021 Oct 24; 21(1):214. PubMed ID: 34689766
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  • 8. Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion.
    Bartley JA, Patil S, Davenport S, Goldstein D, Pickens J.
    J Pediatr; 1986 Feb 24; 108(2):189-92. PubMed ID: 3003318
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  • 9. Deletion on the X chromosome detected by direct DNA analysis in one of two unrelated boys with glycerol kinase deficiency, adrenal hypoplasia, and Duchenne muscular dystrophy.
    Dunger DB, Davies KE, Pembrey M, Lake B, Pearson P, Williams D, Whitfield A, Dillon MJ.
    Lancet; 1986 Mar 15; 1(8481):585-7. PubMed ID: 2869305
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  • 10. Complex glycerol kinase deficiency: molecular-genetic, cytogenetic, and clinical studies of five Japanese patients.
    Matsumoto T, Kondoh T, Yoshimoto M, Fujieda K, Matsuura N, Matsuda I, Miike T, Yano K, Okuno A, Aoki Y.
    Am J Med Genet; 1988 Nov 15; 31(3):603-16. PubMed ID: 2852474
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  • 13. Duchenne muscular dystrophy with adrenal insufficiency and glycerol kinase deficiency: high resolution cytogenetic analysis with molecular, biochemical, and clinical studies.
    Clarke A, Roberts SH, Thomas NS, Whitfield A, Williams J, Harper PS.
    J Med Genet; 1986 Dec 15; 23(6):501-8. PubMed ID: 3027343
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  • 14. Familial deletion of Xp21.2 with glycerol kinase deficiency and congenital adrenal hypoplasia.
    Marlhens F, Chelly J, Kaplan JC, Lefrancois D, Harpey JP, Dutrillaux B.
    Hum Genet; 1987 Dec 15; 77(4):379-83. PubMed ID: 2891606
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  • 16. Characterisation of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita.
    Stuhrmann M, Heilbronner H, Reis A, Wegner RD, Fischer P, Schmidtke J.
    Hum Genet; 1991 Feb 15; 86(4):414-5. PubMed ID: 1999345
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  • 17. Dystrophin expression and genotypic analysis of two cases of benign X linked myopathy (McLeod's syndrome).
    Carter ND, Morgan JE, Monaco AP, Schwartz MS, Jeffery S.
    J Med Genet; 1990 Jun 15; 27(6):345-7. PubMed ID: 2193159
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  • 19. [Syndrome of contiguous gene deletions in Xp-21 (deficiency of the glycerol-kinase complex). The association of Duchenne muscular dystrophy, glycerol kinase deficiency and congenital suprarenal hypoplasia].
    Casado de Frías E, Ruibal Francisco JL, Bueno Lozano G, Pinel Simón G, Reverte Blanc F, Benítez Ortiz J.
    An Esp Pediatr; 1997 Dec 15; 47(6):639-42. PubMed ID: 9575126
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  • 20. Muscle glycerol kinase in Duchenne dystrophy and glycerol kinase deficiency.
    Seltzer WK, Angelini C, Dhariwal G, Ringel SP, McCabe ER.
    Muscle Nerve; 1989 Apr 15; 12(4):307-13. PubMed ID: 2549414
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