Clinical phenotype, muscle MRI and muscle pathology of LGMD1F

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

J. Sarparanta, Per Harald Jonson, Christelle Golzio et al. · Nature Genetics · 2012 · 276 citations

Medicine, Genetics, Molecular Biology +7

Exome sequencing reveals <i>DNAJB6</i> mutations in dominantly‐inherited myopathy

Matthew B. Harms, R. Brian Sommerville, Peggy Allred et al. · Annals of Neurology · 2011 · 176 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21.

Anneke J. van der Kooi, M. van Meegen, T. M. Ledderhof et al. · PubMed · 1997 · 135 citations

Life Sciences, Genetics, Molecular Genetics +9

myotilin Mutation Found in Second Pedigree with LGMD1A

Michael A. Hauser, Cecı́lia Conde, Valeria Kowaljow et al. · The American Journal of Human Genetics · 2002 · 104 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

MRI in the assessment of muscular pathology: a comparison between limb-girdle muscular dystrophies, hyaline body myopathies and myotonic dystrophies

Roberto Stramare, Valentina Beltrame, R. Dal Borgo et al. · La radiologia medica · 2010 · 91 citations

Medicine, Neurology, Radiology +17