Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy

Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI

Olga Camacho Vanegas, Enrico Bertini, Rui-Zhu Zhang et al. · Proceedings of the National Academy of Sciences · 2001 · 290 citations · Full text

Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1)

Eugenio Mercuri, Beril Talim, Behzad Moghadaszadeh et al. · Neuromuscular Disorders · 2002 · 213 citations

Rare Diseases, Mendelian Disorder, Genetic Disorder +5

A short protocol for muscle MRI in children with muscular dystrophies

Eugenio Mercuri · European Journal of Paediatric Neurology · 2002 · 139 citations

Imaging Anatomy, Kinesiology, Medical Imaging +11

Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy

Anne Katrin Lampe · Journal of Medical Genetics · 2005 · 137 citations · Full text

Congenital muscular dystrophy with rigid spine syndrome: A clinical, pathological, radiological, and genetic study

Kevin M. Flanigan, Lynne M. Kerr, Mark B. Bromberg et al. · Annals of Neurology · 2000 · 116 citations

Genetics, Genetic Epidemiology, Spinal Rigidity +19