Congenital muscular dystrophy

To participate in this study, contact: Nigel Clarke

Research site: The Children’s Hospital at Westmead, Institute for Neuroscience and Muscle Research (INMR)

Disorder/Disease Congenital muscular dystrophy (CMD)
Coordinator Nigel Clarke
Project aim/s Identifying new genetic causes of CMD and genotype/phenotype correlations in CMD
Methods 1. Diagnose patients with known genetic causes using protein studies, genetic studies and collaborations (e.g. Shireen Lamande in Melbourne for COLVI studies)
Approach likely to incorporate Perth NMD-gene screen
2. New gene discovery using exome sequencing pipeline
3. Analyse clinical phenotypes to improve patient diagnosis and treatment
Patient inclusion/exclusion criteria All patients diagnosed with congenital muscular dystrophy in Australia and New Zealand
Patient information required for the study Clinical information, pathology report, +/- muscle MRI
Supporting documentation that can be provided INMR Biospecimen Bank information sheets & consent form, INMR exome sequencing information sheet & consent form.
Closing date for patient registration Indefinite
Contact Nigel Clarke