FKRP registry available

The global FKRP patient registry The International Registry for patients with FKRP mutations was officially launched on 1st March 2011. The registry is a patient initiated registry and designed for patients with LGMD2I, MDC1C or other conditions caused by a mutation in the FKRP gene. The FKRP registry is aimed at both, collecting data for […]

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Australia’s first DMD registry

Title: Australian National Duchenne Muscular Dystrophy Registry Description:The availability of health information via the internet has become a critical resource for clinicians, researchers and affected families. Parents and advocacy groups have also become increasingly aware of international registries that provide opportunities for children to access new therapies through clinical trials. In Australia, Duchenne muscular dystrophy […]

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Specimen Collection Procedures Manual

These guidelines outline how to prepare biopsy kits to provide to clinical staff, how to send the specimens, how to process the specimens, how to freeze tissue – critical pathways to ensuring that the tissue is of the highest quality for diagnosis.

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