Fig.3.

Impact of the MYO18B premature stop codon. Immunolabeling of the muscle biopsy of the index patient and an age-matched control using N-terminal and C-terminal myosin 18B antibodies. A) and B) Immunostaining with N-terminal myosin 18B antibodies showed a similar pattern of cytoplasmic staining in frozen muscle sections from the patient and the control. C) and D) Immunostaining using a C-ter myosin 18B antibody demonstrated the absence of staining in the patient’s section compared to the control, validating the presence of a truncated myosin 18B in the patient. E) Western blot using the C-terminal anti-myosin 18B antibody shows absence of signal in muscle extracts from the patient.