Congenital fibre type disproportion
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 fibre type disproportion |
| Coordinator | Nigel Clarke |
| Project aim/s | 1. Clinical study: Natural history/diagnostic clues |
| 2. Histological clues to genetic cause and pathogenesis | |
| 3. New genetic causes | |
| 4. Pathogenesis – especially of tropomyosin myopathies | |
| Methods | Diagnosing known causes: Ampliseq screen (TPM3, RYR1, TPM2, MYH7) + actin |
| Exome sequencing if no cause identified. | |
| Pathogenesis: Identifying basis of muscle weakness, drug development | |
| Patient inclusion/exclusion criteria | All patients with CFTD from Australia and Internationally |
| Patient information required for the study | Clinical information, pathology report, genetic diagnosis (if known) |
| 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 |