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