Research site: Western Australian Institute for Medical Research (WAIMR), Perth
This research is funded by a NHMRC grant and exome sequencing is supported by the Association Francaise Contre les Myopathies (AFM).
The cohort currently includes 68 families with 86 affected individuals from Australia, NZ, Turkey and the UK, as well as whole exome data from 6 cases from 4 families.
Patients affected by foetal akinesia/hypokinesia, arthrogryposis, pterygia or multiple contracture syndromes can participate in the studies.
Saliva kits for DNA collection can be provided if required.