Nemaline myopathy
To participate in this study, contact: Dr Sarah Sandaradura
Research site: The Children’s Hospital at Westmead, Institute for Neuroscience and Muscle Research (INMR)
| Disorder/Disease | Nemaline myopathy |
| Coordinator | Dr Sarah Sandaradura, Neurogenetics Fellow & MPhil student |
| Project aim/s | 1. Natural history study of nemaline myopathy
2. Genetic diagnosis in NM (in patients in whom a genetic diagnosis has not been made) 3. Genotype phenotype correlation 4. Assess the therapeutic effect of tyrosine |
| Methods | Descriptive cohort study. Questionnaire on L-tyrosine. Targeted sequencing of known NM genes in undiagnosed patients. Exome sequencing in some patients. |
| Patient inclusion/exclusion criteria | This study is open to all nemaline myopathy patients to participate in a retrospective study (over past 15 years). |
| Patient information required for the study | Clinical information, tyrosine questionaire Pathology report |
| 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 | Sarah Sandaradura |