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Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease.
Moore, U., Gordish, H., Diaz-Manera, J., James, M.K., Mayhew, A.G., Guglieri, M., Torron, R.F., Rufibach, L.E., Feng, J., Blamire, A.M., Carlier, P.G., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Day, J.W., Jones, K.J., Bharucha-Goebel, D.X., Salort-Campana, E., Pestronk, A., Walter, M.C., Paradas, C., Stojkovic, T., Mori-Yoshimura, M., Bravver, E., Pegoraro, E., Lowes, L.P., Mendell, J.R., Bushby, K. and Straub, V.
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240th ENMC workshop: The involvement of skeletal muscle stem cells in the pathology of muscular dystrophies 25–27 January 2019, Hoofddorp, The Netherlands.
Morgan, J., Butler-Browne, G., Muntoni, F. and Patel, K.
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Immunohistochemistry on a panel of Emery-Dreifuss muscular dystrophy samples reveals nuclear envelope proteins as inconsistent markers for pathology.
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Desmin immunolocalisation in autosomal dominant Emery-Dreifuss muscular dystrophy.
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Painful enlargement of the calf muscles in limb girdle muscular dystrophy type 2B (LGMD2B) with a novel compound heterozygous mutation in DYSF.
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Constitutive upregulations of titin-based signalling proteins in KY deficient muscles.
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Carrier detection in DMD families with point mutations, using PCR-SSCP and direct sequencing.
Lenk, U., Hanke, R. and Speer, A.
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