Fig. 2: Characteristics of the EMD variant c.23C>G, p.Ser8Trp and effect on EMD expression.

A Schematic diagram of emerin (P50402) showing the location of the N-terminal LEM domain and the C-terminal transmembrane (TM) domain. The location of the missense variant identified in the family, c.23C>G, p.Ser8Trp, is marked in red. B Illustration of the stereo view of the emerin LEM domain. The exchange from serine (Ser), marked in green in the wild type, to tryptophan (Trp), marked in red in the mutant, is shown. C Illustration showing the evolutionary conservation of the amino acid sequence in emerin. The position of the exchange, 8, is highlighted in yellow and the exchange from serine (S) to tryptophan (W) in the patient is marked in red. D Western blot analysis on skeletal muscle lysates from individual V:15 (patient) and two age-matched controls showing that emerin is almost completely absent and that no aberrantly spliced protein was detected in the patient compared to the control samples. The band corresponding to myosin heavy chain in the Coomassie-stained gel was used as loading control. E EMD expression was investigated via reverse transcriptase polymerase chain reaction followed by PCR and Sanger on RNA extracted from skeletal muscle tissue from individual V:15 (patient), showing transcripts at near normal levels compared to two age-matched controls samples and no aberrant spliced transcripts were detected. The β-actin gene was used as a loading control.