" /> Mitochondrial myopathy, lethal, infantile - CISMeF





Preferred Label : Mitochondrial myopathy, lethal, infantile;

Symbol : LIMM;

CISMeF acronym : LIMM;

Type : Phenotype, molecular basis known;

Inheritance : Mitochondrial;

Laboratory abnormalities : Mutant mtDNA threonine transfer RNA gene (MTTT, 590090) of questionable etiology; Variable respiratory chain enzyme deficiency;

Prefixed ID : #551000;

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04/05/2025


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