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Journal Abstract Search

116 related items for PubMed ID: 1611771

  • 21. Bethlem myopathy: early-onset benign autosomal dominant myopathy with contractures. Description of two new families.
    Merlini L, Morandi L, Granata C, Ballestrazzi A.
    Neuromuscul Disord; 1994; 4(5-6):503-11. PubMed ID: 7881296
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  • 22. Early-onset benign limb-girdle myopathy with contractures and facial involvement affecting a father and daughter.
    Malandrini A, Scarpini C, Fabrizi GM, Parrotta E, Salvadori C, Guazzi GC.
    J Neurol Sci; 1995 Oct; 132(2):195-200. PubMed ID: 8543948
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  • 24. Two novel CAV3 gene mutations in Japanese families.
    Sugie K, Murayama K, Noguchi S, Murakami N, Mochizuki M, Hayashi YK, Nonaka I, Nishino I.
    Neuromuscul Disord; 2004 Dec; 14(12):810-4. PubMed ID: 15564037
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  • 26. Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy.
    Müller JS, Piko H, Schoser BG, Schlotter-Weigel B, Reilich P, Gürster S, Born C, Karcagi V, Pongratz D, Lochmüller H, Walter MC.
    Neuromuscul Disord; 2006 Jul; 16(7):432-6. PubMed ID: 16730439
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  • 28. [Complete deficiency of adhalin (50 kDa DAG) in skeletal muscle of malignant limb-girdle muscular dystrophy].
    Kawai H, Inui T, Mitsui T, Campbell KP, Shimizu T, Matsumura K.
    Rinsho Shinkeigaku; 1995 Feb; 35(2):184-9. PubMed ID: 7781237
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  • 29. Distal anterior compartment myopathy with early ankle contractures.
    Saito H, Suzuki N, Ishiguro H, Hirota K, Itoyama Y, Takahashi T, Aoki M.
    Muscle Nerve; 2007 Oct; 36(4):525-7. PubMed ID: 17614318
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  • 30. Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing.
    Park HJ, Choi YC, Kim SM, Kim SH, Hong YB, Yoon BR, Chung KW, Choi BO.
    J Clin Neurol; 2015 Apr; 11(2):183-7. PubMed ID: 25749816
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  • 31. [Calpain-3 gene defect causing limb gird muscular dystrophy in a Hungarian family].
    Horváth R, Walter MC, Lochmüller H, Hübner A, Karcagi V, Pikó H, Timár L, Komoly S.
    Ideggyogy Sz; 2005 Jan 20; 58(1-2):52-8. PubMed ID: 15884399
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  • 40. [A new kinship with X-chromosomal benign progressive muscular dystrophy and early contractures (Emery-Dreifuss)].
    Cammann R, Vehreschild T, Ernst K.
    Psychiatr Neurol Med Psychol (Leipz); 1974 Jul 20; 26(7):431-8. PubMed ID: 4449913
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