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