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 |