A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report
暂无分享,去创建一个
V. Dissanayake | C. Bönnemann | S. Donkervoort | A. Foley | N. Sirisena | C. S. Paththinige | B. A. P. S. Pathirana | P. Rathnayake | U. Samaranayake | Nilaksha Neththikumara | O. Neto
[1] N. Battistini,et al. Nutritional Status Evaluation in Patients Affected by Bethlem Myopathy and Ullrich Congenital Muscular Dystrophy , 2014, Front. Aging Neurosci..
[2] C. Ki,et al. Ullrich Congenital Muscular Dystrophy Possibly Related With COL6A1 p.Gly302Arg Variant , 2014, Annals of rehabilitation medicine.
[3] A. Kariminejad,et al. Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations , 2013, Iranian journal of child neurology.
[4] E. Bertini,et al. Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-Terminal domain: a case report , 2013, BMC Medical Genetics.
[5] C. Bönnemann. The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy. , 2011, Handbook of clinical neurology.
[6] F. Rivier,et al. Early onset collagen VI myopathies: Genetic and clinical correlations , 2010, Annals of neurology.
[7] R. Weiss,et al. Autosomal recessive inheritance of classic Bethlem myopathy , 2009, Neuromuscular Disorders.
[8] A. Aloysius,et al. Natural history of Ullrich congenital muscular dystrophy , 2009, Neurology.
[9] A. Nalini,et al. Ullrich congenital muscular dystrophy: report of nine cases from India. , 2009, Neurology India.
[10] K. Mathews,et al. Collagen VI glycine mutations: Perturbed assembly and a spectrum of clinical severity , 2008, Annals of neurology.
[11] E. Bertini,et al. Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy , 2005, Annals of neurology.
[12] U. Reed,et al. Ullrich congenital muscular dystrophy and Bethlem myopathy: clinical and genetic heterogeneity. , 2005, Arquivos de neuro-psiquiatria.
[13] Hilde van der Togt,et al. Publisher's Note , 2003, J. Netw. Comput. Appl..
[14] K. Arimura,et al. Frameshift mutation in the collagen VI gene causes Ullrich's disease , 2001, Annals of neurology.
[15] P. Barth,et al. UvA-DARE ( Digital Academic Repository ) Collagen VI mutations in Bethlem myopathy , 2012 .