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[null,"Clinical Diagnosis","Genetic Diagnosis","Sex","Age (years)","Peripheral Neuropathy (Y/N)","Neuropathy Diagnostics","Plasma serine (uM)","Plasma Alanine (uM)","Other features"]
["PSD patient 1","PSAT def","PSAT1 c.c43G>T (p.Ala15Pro); c.467C>T (p.p.Thr156Met)","F",38,"Y","Spastic quadriparesis and fixed contractures, absent sensation in extremities, absent DTRs, NCV w/ axonal sensorimotor neuropathy ",21,568,"Intellectual disability, microcephaly, ichthyosis, sensorineural hearing loss"]
[{"$nulls":9},"CSF Serine: 3.8 umol/L"]
["PSD patient 2","PSPH def","PSPH c.131T>G (p.Val44Gly); c.421G>A (p.Gly141Ser)","F",40,"Y","NCV w/severe length-dependent axonal sensorimotor neuropathy (motor>sensory)",24,226,"Intellectual disability, microcephaly, absence seizures, severe eczema"]
["PMD patient 1","MERRF","m.8344A>G                       (85% heteroplasmy, muscle)","M",30,"Y","NCV of LE w/ combined sensory polyneuropathy","75,79",490463,"Cardiomyopathy, Myopathy with RRF on biosy"]
["PMD patient 2","MERRF","m.8344A>G                             (65% heteroplasmy, blood)","F",60,"Y","Combined sensory and motor neuropathy of LE on physical exam",34,378,"Hearing loss, myopathy"]
["PMD patient 3","adPEO","POLG c.1328G>A (p.Arg443His)            ","M",72,"Y","1. Length dependent sensory motor neuropathy of LE and UE on exam                                             2. Small fiber neuropathy on skin biopsy","56,90",433505,"1.Myopathy with RRF on biopsy, PEO                                                   2.Additional molecular findings: "]
[{"$nulls":9},"m.3264_16074del12811 (25% heteroplasmy, muscle) and m.3578_15546del11696 (25% heteroplasmy, muscle)"]
["PMD patient 4","MERRF","m.8344A>G                      (95% heteroplasmy, blood)","F",18,"Y","Length dependent sensory motor neuropathy of LE on exam with pes cavus and hammer toes","89,87",455554,"Seizures, SVT, Myopathy, MRI with abnormal signal in the pons, tectum and thalamus"]
["PMD patient 5","MELAS","m.3243 A>G                           (90% heteroplasmy, blood)","F",18,"N","Normal clinical sensory/propioception evaluation. No NCV done. ",84,380,"Diabetes, Hearing loss, learning disability"]
["PMD patient 6","LHON Plus","m.14459G>A               (homoplasmic, blood)","F",21,"N","Normal clinical sensory/propioception evaluation. No NCV done. ",142,406,"LE spasticity, MRI with white matter changes in the basal ganglia  (left caudate and external pallidum)."]
[]
["adPEO, autosomal dominant progressive external ophthalmoplegia; DTRs, deep tendon reflexes; LE, lower extremity; LHON, Leber’s hereditary optic neuropathy; MELAS, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes; MERRF, myoclonic epilepsy with ragged red fibers; NCV, nerve conduction velocity; PMD, primary mitochondrial disorder; PSAT def, phosphoserine aminotransferase deficiency; PSD, primary serine deficiency; PSPH def, phosphoserine phosphatase deficiency; RRF, ragged red fibers."]