The MYO-SEQ project is based at Newcastle University, UK. In collaboration with the Broad Institute of Harvard and MIT, we apply whole exome sequencing to a large cohort of patients with unexplained limb‐girdle weakness.
We aim to:
- contribute to the diagnostic pathway for patients affected by known forms of limb girdle muscular dystrophy
- contribute to the improvement of the diagnostic awareness of rare neuromuscular diseases among physicians
- speed up the integration of next-generation sequencing technologies into healthcare
The focus on undiagnosed patients with a defined clinical phenotype enables increased diagnostic rates for disease causing mutations in known genes in this cohort. Whole exome sequencing also provides scope both for new gene discovery and for additional research into disease modifiers and genotype‐phenotype correlations.
The patients that will be included in the MYO-SEQ project will:
- be aged 10 years and above at disease onset (patients younger than 60 years will be given priority for inclusion into the project)
- present with limb-girdle muscle weakness and/or elevated serum creatine kinase activity
