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Muscle & Nerve|March 1, 2005
Enrichment of the R77C alpha-sarcoglycan gene mutation in Finnish LGMD2D patientsP Hackman, V Juvonen, J Sarparanta, et al.
Neurology|March 10, 2012
Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5S Penttilä, J Palmio, T Suominen, et al.
Neurology|August 25, 2010
MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathyN Muelas, P Hackman, H Luque, et al.
Neuromuscular Disorders : NMD|March 17, 2004
New methods for molecular diagnosis and demonstration of the (CCTG)n mutation in myotonic dystrophy type 2 (DM2)R Sallinen, A Vihola, L L Bachinski, et al.
Neurology|October 13, 2004
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvementG Van Goethem, P Luoma, M Rantamäki, et al.
European Journal of Neurology|February 14, 2018
Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French familiesP H Jonson, J Palmio, M Johari, et al.
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