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Fig. 3 | BMC Medical Genetics

Fig. 3

From: Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture

Fig. 3

a, b The two mutations R1434P and A1437P impair myosin self-assembly properties and have dominant negative activity in non-muscle cells. COS-7 cells were transfected with WT and mutant GFP-tagged myosins as reported and imaged by confocal microscopy 12 h later. a (GFP): cells transfected with only GFP-tagged myosins. b (GFP, mCherry, Merge): cells co-transfected with WT or mutant GFP-tagged and WT mCherry-tagged myosins. Bar corresponds to 10 μm. c, d The two mutations R1434P and A1437P are efficiently incorporated in cardiomyocytes. NRVMs were transfected with the Amaxa Nucleofector™ Technology and imaged 96 h later by confocal microscopy. c (GFP): cells transfected with GFP-tagged myosins using 2 μg of plasmid DNA. d (GFP, mCherry, Merge): cells co-transfected with GFP-tagged and WT mCherry myosins using 1 μg of plasmid DNA per construct. Bar corresponds to 10 μm

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