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Clinical application of whole exome sequencing reveals a novel compound heterozygous TK2-mutation in two brothers with rapidly progressive combined muscle-brain atrophy, axonal neuropathy, and status epilepticus

Mendelian DisorderNeurogenomicsNeurological DisorderMedicineGeneticsGenetic DisorderMuscle-brain AtrophyClinical ApplicationWhole Exome SequencingNeurologyNeuroscienceDisease Gene IdentificationNeuromuscular Pathology