Retrospective Diagnosing of Rare Disease Patients
Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease
Despite diagnostic exome/genome sequencing, patients remain without a diagnosis when the relevant gene-disease association is not yet known at the time of analysis. CENTOGENE therefore re-evaluates negative cases regularly, which frequently leads to establishing a diagnosis of several patients. A corresponding case series for a recently described neuromuscular disorder was published in the European Journal of Medical Genetics.
- Anett Marais
- et al.