M0056
MERRF (Myoclonic Epilepsy Associated with Ragged Red Fibres): Mitochondrial Diseases
Test Details: Myoclonic Epilepsy Associated with Ragged Red Fibres (MERRF) is a rare inherited disorder characterised by myoclonus, generalized epilepsy, ataxia and ragged red fibers observed in histological sections of muscle biopsy tissue. The A8344G mutation in the tRNA Lys (MTTK) gene of mitochondria DNA accounts for about 80% of patients with typical clinical findings. Two additional mutations in the same gene, T8356C and G8363A, are present due to mitochondrial hetroplasmy.
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Category
Molecular Genetics
Pre-test Information
Clinical and family history is mandatory.
Report Delivery
4 working days
Gender
All
Organ
Multi-Organ
MERRF (Myoclonic Epilepsy Associated with Ragged Red Fibres): Mitochondrial Diseases
5950
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