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Journal Abstract Search

171 related items for PubMed ID: 25749816

  • 21. Bethlem myopathy in a black creole pedigree.
    Adams CR, Figueroa KP, Zu L, Anderson TL, Graves MC, Garcia CA, Pulst SM.
    J Clin Neuromuscul Dis; 2002 Sep; 4(1):7-10. PubMed ID: 19078680
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  • 22. Bethlem myopathy: An autosomal dominant myopathy with flexion contractures, keloids, and follicular hyperkeratosis.
    Saroja AO, Naik KR, Nalini A, Gayathri N.
    Ann Indian Acad Neurol; 2013 Oct; 16(4):712-5. PubMed ID: 24339618
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  • 23. Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy.
    Pan TC, Zhang RZ, Pericak-Vance MA, Tandan R, Fries T, Stajich JM, Viles K, Vance JM, Chu ML, Speer MC.
    Hum Mol Genet; 1998 May; 7(5):807-12. PubMed ID: 9536084
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  • 24. Autosomal recessive inheritance of classic Bethlem myopathy.
    Foley AR, Hu Y, Zou Y, Columbus A, Shoffner J, Dunn DM, Weiss RB, Bönnemann CG.
    Neuromuscul Disord; 2009 Dec; 19(12):813-7. PubMed ID: 19884007
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  • 30. Genotype-Phenotype Correlation of the Childhood-Onset Bethlem Myopathy in the Mediterranean Region of Turkey.
    Kutluk MG, Kadem N, Bektas O, Randa NC, Tuncer GO, Albayrak P, Eminoglu T, Teber ST.
    Ann Indian Acad Neurol; 2021 Dec; 24(4):547-551. PubMed ID: 34728949
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  • 32. Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea.
    Lee JH, Shin HY, Park HJ, Kim SH, Kim SM, Choi YC.
    J Clin Neurol; 2017 Oct; 13(4):331-339. PubMed ID: 28831785
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  • 34. [Study of a Bethlem myopathy pedigree resulted from a novel mutation of COL6A3 gene].
    Cao W, Zhang Y, Zhong C, Lu G, Tan Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Dec; 31(6):698-702. PubMed ID: 25449070
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