Description

Myoclonic epilepsy associated with ragged red fibers (MERRF) gene mutation causes a G to A point mutation at base pair 8344 in the mitochondrial tRNA lysine (MTTK) gene. Source: Regenstrief Institute

Basic Part Properties

Part Name
MT-TK gene.m.8344A>G
Part Display Name
MT-TK gene m.8344A>G
Part Type
Component (Describes the core component or analyte measured)
Created On
2000-05-04
Construct for LOINC Short Name
MT-TK m.8344A>G

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CodeSystem lookup
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Language Variants Get Info

TagLanguageTranslation
zh-CNChinese (China)MT-TK 基因.m.8344A>G
Synonyms: MERFF 综合征;MERRF 综合征;MTTK c.A8344G;tRNA 赖氨酸;tRNA-lys;tRNA-赖;tRNA-赖氨酸;肌肉阵挛性癫痫与红肌纤维粗糙不齐;肌肉阵挛性癫痫与红肌纤维粗糙不齐(Myoclonic epilepsy and ragged red muscle fibers);肌肉阵挛性癫痫和肌纤维粗红病;肌阵孪性癫痫与破损性红肌纤维病;肌阵挛性癫及破碎红色肌纤维症候群;肌阵挛性癫痫合并破碎红纤维;肌阵挛性癫痫和不规整红纤维病
et-EEEstonian (Estonia)MTTK geen.c.A8344G
es-ESSpanish (Spain)Gen MT-TK m.8344A>G
it-ITItalian (Italy)MT-TK, gene.m.8344A>G
Synonyms: Gene MT-TK m.8344A>G
tr-TRTurkish (Turkey)MT-TK geni.m.8344A>G
ru-RURussian (Russian Federation)MT-TK ген.m.8344A>G
nl-NLDutch (Netherlands)MT-TK-gen.m.8344A>G
Synonyms: MT-TK gen.m.8344A>G
fr-FRFrench (France)MT-TK gène mutation m.8344A>G
pl-PLPolish (Poland)MT-TK gen.m.8344A>G
Synonyms: Gen MT-TK m.8344A>G
el-GRGreek (Greece)Γονίδιο MT-TK m.8344A>G
Synonyms: Γονίδιο MT-TK m.8344A>G