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Journal Abstract Search

222 related items for PubMed ID: 11252708

  • 21. Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD.
    Passos-Bueno MR, Moreira ES, Vainzof M, Marie SK, Zatz M.
    Hum Mol Genet; 1996 Jun; 5(6):815-20. PubMed ID: 8776597
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  • 22. A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21.
    Starling A, Kok F, Passos-Bueno MR, Vainzof M, Zatz M.
    Eur J Hum Genet; 2004 Dec; 12(12):1033-40. PubMed ID: 15367920
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  • 25. Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy.
    Illarioshkin SN, Ivanova-Smolenskaya IA, Tanaka H, Vereshchagin NV, Markova ED, Poleshchuk VV, Lozhnikova SM, Sukhorukov VS, Limborska SA, Slominsky PA, Bulayeva KB, Tsuji S.
    Brain; 1996 Dec; 119 ( Pt 6)():1895-909. PubMed ID: 9009996
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  • 26. Limb-girdle muscular dystrophy: a follow-up study of 79 patients.
    Mahjneh I, Bushby K, Pizzi A, Bashir R, Marconi G.
    Acta Neurol Scand; 1996 Sep; 94(3):177-89. PubMed ID: 8899051
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  • 27. Autosomal dominant limb girdle myopathy with ragged-red fibers and cardiomyopathy. A pedigree study by in vivo 31P-MR spectroscopy indicating a multisystem mitochondrial defect.
    Fabrizi GM, Lodi R, D'Ettorre M, Malandrini A, Cavallaro T, Rimoldi M, Zaniol P, Barbiroli B, Guazzi G.
    J Neurol Sci; 1996 Apr; 137(1):20-7. PubMed ID: 9120483
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  • 28. [Clinical and genetic heterogeneity of limb-girdle muscular dystrophy].
    Kozłowska M.
    Neurol Neurochir Pol; 1995 Apr; 29(4):569-75. PubMed ID: 8544936
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  • 29. The heart in limb girdle muscular dystrophy.
    van der Kooi AJ, de Voogt WG, Barth PG, Busch HF, Jennekens FG, Jongen PJ, de Visser M.
    Heart; 1998 Jan; 79(1):73-7. PubMed ID: 9505924
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  • 30. The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12.
    Moreira ES, Vainzof M, Marie SK, Sertié AL, Zatz M, Passos-Bueno MR.
    Am J Hum Genet; 1997 Jul; 61(1):151-9. PubMed ID: 9245996
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  • 31. Clinical and genetic characterization of limb girdle muscular dystrophy R7 telethonin-related patients from three unrelated Chinese families.
    Chen H, Xu G, Lin F, Jin M, Cai N, Qiu L, Ye Z, Wang L, Lin M, Wang N.
    Neuromuscul Disord; 2020 Feb; 30(2):137-143. PubMed ID: 32005491
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  • 32. Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21.
    van der Kooi AJ, van Meegen M, Ledderhof TM, McNally EM, de Visser M, Bolhuis PA.
    Am J Hum Genet; 1997 Apr; 60(4):891-5. PubMed ID: 9106535
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  • 34. The second kindred with autosomal dominant distal myopathy linked to chromosome 14q: genetic and clinical analysis.
    Hedera P, Petty EM, Bui MR, Blaivas M, Fink JK.
    Arch Neurol; 2003 Sep; 60(9):1321-5. PubMed ID: 12975303
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  • 35. Limb girdle muscular dystrophy: reappraisal of a rejected entity.
    van der Kooi AJ, de Visser M, Barth PG.
    Clin Neurol Neurosurg; 1994 Aug; 96(3):209-18. PubMed ID: 7988088
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  • 36. Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype.
    Weiler T, Greenberg CR, Nylen E, Halliday W, Morgan K, Eggertson D, Wrogemann K.
    Am J Hum Genet; 1996 Oct; 59(4):872-8. PubMed ID: 8808603
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  • 37. A 'second truncation' in TTN causes early onset recessive muscular dystrophy.
    Harris E, Töpf A, Vihola A, Evilä A, Barresi R, Hudson J, Hackman P, Herron B, MacArthur D, Lochmüller H, Bushby K, Udd B, Straub V.
    Neuromuscul Disord; 2017 Nov; 27(11):1009-1017. PubMed ID: 28716623
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  • 38. A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2.
    Palenzuela L, Andreu AL, Gàmez J, Vilà MR, Kunimatsu T, Meseguer A, Cervera C, Fernandez Cadenas I, van der Ven PF, Nygaard TG, Bonilla E, Hirano M.
    Neurology; 2003 Aug 12; 61(3):404-6. PubMed ID: 12913210
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