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MEPAN Syndrome Gene Review

sfcomms Message
24 Jul 2019, 05:06 AM

In May 2019 the Gene Review for MEPAN Syndrome - caused by mutations to the MECR gene - was published. It's an important online resource to help create more awareness for the condition and help clinicans diagnose their patients. The are surely more MEPAN patients to be found as people with a previous diagnosis of cerebral palsy, childhood-onset dystonia, or Juvenile Parkinsons undergo genetic testing to explore the underlying cause of their condition.