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Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency
Download from www.nature.comToward a mtDNA locus-specific mutation database using the LOVD platform
Download from www.ncbi.nlm.nih.govSimultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT
Download from www.researchgate.netHereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation
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