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