A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report

[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 .