Limb girdle muscular dystrophy

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 Limb girdle muscular dystrophy (LGMD)
Coordinator Nigel Clarke
Project aim/s Gene discovery and genotype-phenotype correlations in LGMD
Methods 1. Diagnose patients with known genetic causes using clinical information, muscle MRI, protein and genetic studies.
Approach likely to incorporate Perth NMD-gene screen
2. New gene discovery using exome sequencing pipeline
3. Genotype-phenotype studies to improve approaches to patient diagnosis
Patient inclusion/exclusion criteria Patients who present with limb-girdle muscular dystrophy over age 2 years.
Patient information required for the study Clinical information + pathology report
Some diagnostic screens require the frozen muscle biopsy
Supporting documentation that can be provided Consent – can supply CHW consent forms
Closing date for patient registration Indefinite
Contact Nigel Clarke