Centronuclear myopathy

Coordinated by Dr Emily Oates (Clinical Geneticist, PhD studies)

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

To participate in this study, contact: Nigel Clarke

Disorder/Disease Centronuclear myopathy (CNM)
Coordinator Coordinated by Dr Emily Oates (Clinical Geneticist, PhD student)
Project aim/s 1. Clinical study: Natural history/diagnostic approaches
2. Histological clues to genetic cause and pathogenesis
3. Identifying new genetic causes
4. Pathogenesis – especially of DNM2-related CNM
Methods 1. Diagnose CNM patients with mutations in the known CNM genes
2. Exome sequencing if no cause identified.
3. Study various aspects of disease pathogenesis using patient fibroblast/myoblast studies, protein studies (WB, IHC), planning AAV-mouse models
Patient inclusion/exclusion criteria Patients with centronuclear myopathy
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