Mitochondria Phenome Knowledgebase

Phenotypic Feature Electromyography-abnormal finds 21 Gene-Feature associations that are associated with 21 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ACADS 201470 Electromyography-abnormal Electromyogram abnormal; severe loss of compound motor action potential neurologic 15534767
CPT2 255110 Electromyography-abnormal myogenic abnormalities; myopathic changes neurologic 9600456 11999976
CYP27A1 213700 Electromyography-abnormal axonal neuropathy; demyelinating neuropathy neurologic 1763899 10775536
DMPK 160900 Electromyography-abnormal myotonic discharges; dive bomber; polyphasic units; myotonic changes; EMG patterns abnormal; electrophysiological features of myotonia neurologic 7811171 7829609 8421476 9402536 9728948 9856556 10323316 10385049 10935840 11407162 11424841 11874420 12240714 14521021 14726854 15326270 15770660
ECGF1 603041 Electromyography-abnormal neurogenic changes; EMG patterns abnormal; demyelinating polyneuropathy signs neurologic 9683610 16198108 16498612 16530527
ETFDH 231680 Electromyography-abnormal myopathic; chronic; fiber loss neurologic 15669683
GDAP1 214400 Electromyography-abnormal reduced recruitment pattern proximal muscles; voluntary activity absent distal muscles; muscles denervated neurologic 12707075
GDAP1 607706 Electromyography-abnormal neurogenic patterns; denervation; absence of motor unit action potentials; spontaneous fibrillation potentials neurologic 12821518 15805163
GDAP1 608340 Electromyography-abnormal neuropathic changes neurologic 12566285
HD 143100 Electromyography-abnormal cocontraction of agonist and antagonist muscles; abnormal triphasic patterns; EMG patterns abnormal; electromyographic discharges; EEG myoclonus signs; spike discharges; polyspike discharges neurologic 7845404 8474490 10348461 11524486
MFN2 609260 Electromyography-abnormal electromyography; denervation signs; recruitment patterns reduced neurologic 11148244 12601114 16087932
NDUFA12L 252010 Electromyography-abnormal EMG patterns abnormal neurologic 16200211
PANK2 234200 Electromyography-abnormal chronic; partial; denervation; reinnervation; neurogenic pattern neurologic 12811783
PARK7 105500 Electromyography-abnormal denervation signs; diffuse; fibrillation potentials; fasciculations neurologic 16240358
PDHA1 308930 Electromyography-abnormal neuropathic findings; axonal neuropathy neurologic 9187674
PEO1 271245 Electromyography-abnormal neurogenic changes; neurogenic lesions neurologic 8133312
PEO1 609286 Electromyography-abnormal EMG patterns abnormal; brachioradialis muscle; primary muscle disease features; myopathic pattern; motor unit polyphasia; interference pattern reduced neurologic 10522883 12163192 15258213
POLG 157640 Electromyography-abnormal neuropathic changes; myogenic changes; mixed neurologic 12975295
POLG 607459 Electromyography-abnormal myogenic signs; chronic reinnervation; fibrillations; abductor pollicis brevis muscle fibrillations neurologic 12565911
PUS1 600462 Electromyography-abnormal myopathic patterns neurologic 7726239
SCO2 604377 Electromyography-abnormal neurogenic pattern; active denervation; demyelination patterns neurologic 10545952 11673586 16765077
SLC25A4 609283 Electromyography-abnormal myopathic pattern neurologic 10364542 16155110
SOD1 105400 Electromyography-abnormal fasciculations; neurogenic patterns; denervation potentials neurologic 7624031 7647793 8907321 9444365 9455983 10430435 10732812 10751275 12480087 14759637 15235802 15851752 16423367
TIMM8A 304700 Electromyography-abnormal myopathic pattern neurologic 10878669
TK2 609560 Electromyography-abnormal primary muscle disease; myopathic signs; myopathic motor units; fibrillation potentials; positive sharp waves neurologic 12269728 12391347 15907288 16504786

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