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 |