The team at Great Ormond Street Hospital in London compiled clinical and molecular data from patients suspected of having congenital myopathy or congenital muscular dystrophy (CMD):
- all had undergone high-throughput sequencing (NGS) genetic testing;
- of the 1,927 individuals studied with these two presumptive diagnoses, only 29% received a confirmatory molecular diagnosis, i.e. 553 patients;
- 345 had some form of congenital myopathy and 208 had congenital muscular dystrophy,
- in the first group, pathogenic variants predominated in the RYR1, TTN, MTM1, NEB and SELENON,
- in the second group, 40% of the variants found were in one of the three COL6 genes, followed by variants in the LAMA2 gene.
These NGS studies also provided an opportunity to identify new genes, particularly in the field of congenital myopathies.
