My perfect mistake

Association for research in RBCK1 Gene

Polyglucosan body myopathy type 1 is an ultra-rare disease, which occurs in childhood as a result of a mutation in the RBCK1 gene.
Polyglucosan bodies accumulate within tissues leading to a series of devastating symptoms: from total impairment of walking to dilated cardiomyopathy and, in the worst cases, severe immunodeficiency leading to premature death at an early age.

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Cases described in the scientific literature
25 children
Known cases in Italy
1 child
Onset of symptoms
2/12 years
Mean life expectancy
5/25 years

My Perfect Mistake Association aims to raise funds, in partnership with Telethon, to finance research into polyglucosan body type 1 myopathy, in order to find an effective cure and give hope for life to all children and teenagers affected by this disease.

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Support research

WE WANT TO KNOW
Knowledge is the foundation on which to build the future. Scientifical research helps lots of people in the world, and we must support it all together.

WE WANT TO BELIEVE
Research is hope, for children and adults that suffer from rare diseases. Only research can help them and that means believe in tomorrow.

WE WANT TO FIGHT
Science is the only weapon we have to fight rare diseases. Progress gets through scientifical research.

WE WANT TU SUPPORT
Every one of us can make a gesture to support research. What we do it’s an investment for a better future.

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