Dystrophinopathies

To participate in this study, contact: Monique Ryan

Research site: Royal Children’s Hospital, Melbourne

Disorder/Disease	Dystrophinopathies
Coordinator	Monique Ryan
Project aim/s	We have identified a cohort of patients on chromosomal microarray testing performed for developmental delay who have deletions or duplications in the dystrophin gene, these findings subsequently confirmed on MLPA in most patients. However, while patients have cognitive impairment, muscle weakness is minimal or absent, and the CK level is normal or minimally elevated. Further study is ongoing to identify the relationship of the dystrophin mutation to the cognitive impairment, and to understand the reasons for the lack of (or minimal) muscle phenotype in these patients.
Methods	Chromosomal microarray
Patient inclusion/exclusion criteria	Patients with dystrophin deletions or duplications found on chromosomal microarray in whom a typical Duchenne or Becker muscular dystrophy phenotype was not suspected nor subsequently confirmed.
Patient information required for the study
Supporting documentation that can be provided
Closing date for patient registration
Contact	Monique Ryan