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