Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy

The majority of novel disease genes is currently being identified in less well-investigated consanguineous populations. Based on its corresponding global positioning, CENTOGENE has been able to contribute significantly to such research projects. The most recent example is the discovery of recessive mutations in the transcription factor PAX7 to underlie a new form of muscle disease. The findings were published in Genetics in Medicine, one of the leading journals in the field.