Title

Mitochondrial disease patient cohort study

Lead Clinician

Dr Robert McFarland
Senior Clinical Lecturer & Consultant Paediatric Neurologist
MRC Centre for Translational Research in Neuromuscular Diseases
Tel : 0191 2820340

Additional investigators:

Prof. Doug Turnbull - Professor of Neurology. Prof. Mike Hanna - Professor of Clinical Neurology. Prof. Jo Poulton - Professor of Mitochondrial Genetics. Dr. Shamima Rahman - Senior Clinical Lecturer & Consultant in Paediatric Metabolic Medicine. Dr. Mike Champion - Consultant in Paediatric Metabolic Medicine. Dr Victoria Nesbitt - Clinical Research Associate & Paediatric Registrar. Dr Robert Pitceathly - Clinical Research Associate & Honorary Registrar.

Case Definition

Patients with mitochondrial disease

Age range for cases: No upper or lower age limit

Inclusion Criteria

Patients with mitochondrial disease confirmed on biochemical and/or genetic analysis (both mtDNA and nuclear DNA mutations); asymptomatic patients known to harbour pathogenic mutations; patients with a clinical phenotype consistent with mitochondrial disease but without confirmatory genotype, in whom other neurometabolic disorders have been excluded.

Exclusion Criteria

N/A