Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy

Camaco-Vanegas, 2001, Ullrich scleroatomic muscular dystrophy is caused by recessive matations in collagen type VI, Proc Natl Acad Sci, 98, 7516, 10.1073/pnas.121027598 Jobsis, 1996, Genetic localization of Bethlem myopathy, Neurology, 46, 779, 10.1212/WNL.46.3.779 Mercuri, 2002, Collagen VI involvement in Ullrich Syndrome: a clinical, genetic and immunohistochemical study, Neurology, 58, 1354, 10.1212/WNL.58.9.1354 Mercuri, 2002, Muscle MRI findings in a three-generation family affected by Bethlem myopathy, Eur J Paediatr Neurol, 6, 309, 10.1016/S1090-3798(02)90618-5 Merlini, 2002, Bethlem myopathy: early onset benign autosomal dominant myopathy with contractures: description of two new families, Neuromusc Disord, 12, 296 Pepe, 2002, Bethlem myopathy (BETHLEM). 86th ENMC International workshop, 10–11 November 2000, Naarden, The Netherlands, Neuromusc Disord, 12, 296, 10.1016/S0960-8966(01)00275-9 Mercuri, 2003, Muscle magnetic resonance imaging in patients with congenital muscular dystrophy and Ullrich phenotype, Neuromusc Disord, 13, 554, 10.1016/S0960-8966(03)00091-9 Pepe, 1999, A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen, Neuromusc Disord, 9, 264, 10.1016/S0960-8966(99)00014-0 Lampe AK, Dunn DM, von Niederhausern AC et al. Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. J Med Genet; in press. Bonnemann, 2003, Muscle ultrasound in Bethlem myopathy, Neuropediatrics, 12:34, 335 Flanigan, 2000, Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study, Ann Neurol, 47, 152, 10.1002/1531-8249(200002)47:2<152::AID-ANA4>3.0.CO;2-U Mercuri, 2002, Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1), Neuromusc Disord, 12, 631, 10.1016/S0960-8966(02)00023-8 Mercuri, 2002, Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy, Neuropediatrics, 33, 10, 10.1055/s-2002-23593 Mercuri, 2002, A short protocol for muscle MRI in children with muscular dystrophies, Eur J Paediatr Neurol, 6, 305, 10.1016/S1090-3798(02)90617-3