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Fig. 1 | BMC Neurology

Fig. 1

From: Dominantly inherited myosin IIa myopathy caused by aberrant splicing of MYH2

Fig. 1

Pedigree and molecular genetics. A Pedigree of the family, filled symbols indicate affected individuals and result from the genetic analysis for the variant c.5673 + 1G > C is shown (mut = mutation present, wt = wild type). B Schematic illustration showing the splicing effect of the c.5673 + 1G > C variant, which was investigated by reverse transcriptase polymerase chain reaction (RT-PCR). C PCR-products from the RT-PCR by gel electrophoresis. In the patient, a strong band with lower molecular size was identified compared to a control sample. D Sanger sequencing of cDNA derived from mRNA extracted from skeletal muscle, showing transcript lacking exon 39 (p.1860_1891del)

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