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Fig. 1 | Acta Neuropathologica Communications

Fig. 1

From: Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation

Fig. 1

FLNc expression in different mouse muscles, and soleus muscle of wildtype and Hom mice. a Protein quantification in different wildtype mouse muscles demonstrated highest FLNc expression levels in soleus muscle. Anti-GAPDH was used as loading and normalization control. n = 5. EDL: Musculus (M.) extensor digitorum longus; Gast: M. gastrocnemius; Quad: M. quadriceps; TA: M. tibialis anterior; Sol: M. soleus; Dia: diaphragm. b Quantitative real time PCR showed virtually identical total Flnc mRNA levels in adult WT and Hom animals (n = 4–6). c Comparison of Flna and Flnb mRNA expressions using the Biorad CFX manager software version 3.1 and Student’s t-test revealed no significant differences in Hom animals (n = 4–6). d, e Western blotting of total soleus muscle extracts from adult mice using an antibody recognizing both, WT and mutant FLNc (FLNc total) in conjunction with protein quantification using a LI-COR Odyssey Infrared Imaging System. Statistical analysis using Mann-Whitney U-testing indicated a significant reduction to approximately 40% of total FLNc expression in Hom animals. Results are shown as mean +/− IQR (n = 4; p = 0.0286). Staining with an antiserum recognizing the carboxy-terminal 16 amino acids of FLNc (and thus only WT FLNc) confirmed its complete absence in Hom animals (n = 3)

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