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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features – a case report

Fig. 1

Family tree, genetic and skeletal muscle features in a patient harboring a novel mutation in MYH7. a Pedigree of the family. Circles are women and squares are men. The RYR1 and MYH7 genotypes of the affected individuals are also indicated. WT indicates normal sequence. b Muscle biopsy findings in patients III.4 (upper panel, final magnification x500) and III.2 (lower panel, x250). Light microscopy of sections stained with NADH-tetrazolium reductase showed subtle eccentric disarray of the intermyofibrillar network or eccentric cores. c Electropherogram of the region flanking the c.4303 T > C:p.(Ser1435Pro) mutation in the MYH7 gene. The arrow indicates the nucleotide change in case III.4 (P1) when compared to a normal control (WT). The mutated codon is boxed

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