Russian researchers have published a study of a sibling with a diagnosis of myopathy linked jointly to the SPRK3 and TTN genes:
- two brothers aged 6 and 10 presented with a congenital myopathy that was very early onset but not very progressive.
- Their whole exome genotyping revealed a pathogenic variant in the gene encoding titin and another in the SPRK3 gene;
- each of these variants taken separately could not explain the myopathy,
- the whole was very reminiscent of a recently published case of digenism involving the same two genes (but with distinct variants).
New high-throughput sequencing (NGS) techniques are likely to increase the number of such cases.
