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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:pure mitochondrial myopathy
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Accession:EFO:MONDO:0016807 term browser browse the term
Definition:Pure mitochondrial myopathy is a rare mitochondrial disease characterized by exclusive skeletal muscle involvement, without clinical evidence of other organ involvement, manifesting with progressive limb weakness, proximal limb muscle atrophy, and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia, and diminished deep tendon reflexes.
Synonyms:alt_id: MONDO:0016807
 xref: GARD:20768;   MEDGEN:1375079;   ORDO:254854;   SCTID:732245008;   UMLS:C4517289;   icd11.foundation:141365898


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          mitochondrial disease 0
            pure mitochondrial myopathy 0
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