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Fig. 4 | Acta Neuropathologica Communications

Fig. 4

From: Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant

Fig. 4

RNA and protein studies. A, B RT-PCR agarose gel electrophoresis using two different pairs primers showing a detectable band above the expected one, indicated by a white star. C Schematic representation of the retained introns in P1 versus CTR. D Muscle homogenate gel electrophoresis of P1 and a control. The molecular masses of the protein are shown on the left. The Titin degradation products, nebulin and myosin are also shown. MHC was used as a loading control. Western blot analysis of patient muscle samples using different antibodies detecting different titin domains. Anti-titin antibodies: N2A isoform (Mouse N2A T5650 USbiological), A-band (Rabbit A169 #11-96 Myomedix), Z-disk (Rabbit Z1Z2 TTN-1 Miomedix), PEVK region (Mouse PEVK 9D10 DSHB). Titin degradation products and their predicted molecular weight are indicated on the left. The data are presented as mean ± SEM

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Acta Neuropathologica Communications

ISSN: 2051-5960

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