Decreased activity of cytochrome C oxidase in muscle tissue

Symptom Information:

Symptom ID: HPO:0003688
Synonyms:
Cytochrome c oxidase deficiency in skeletal muscle [HPO:0003688]
Decreased skeletal muscle cytochrome c oxidase activity [HPO:0003688]
Skeletal muscle biopsy shows decreased cytochrome C oxidase activity [OMIM,du]
Quality:
Cross references:
Is a (Direct Parents):
HPO         Muscle abnormality related to mitochondrial dysfunction
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the musculature(HPO:0003011)
          Muscle abnormality related to mitochondrial dysfunction(HPO:0003800)
             Decreased activity of cytochrome C oxidase in muscle tissue(HPO:0003688)
MedDRA:
Database Frequency: 20 / 7739
Resource:

All diseases associated with this symptom:

Autosomal dominant progressive external ophthalmoplegia (Orphanet:254892)
Autosomal recessive progressive external ophthalmoplegia (Orphanet:254886)
Autosomal recessive spastic paraplegia type 7 (Orphanet:99013)
Combined oxidative phosphorylation defect type 17 (Orphanet:369913)
Combined oxidative phosphorylation defect type 8 (Orphanet:319504)
Congenital lactic acidosis, Saguenay-Lac-St. Jean type (Orphanet:70472)
Ethylmalonic encephalopathy (Orphanet:51188)
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 (Orphanet:168566)
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome (Orphanet:363694)
Isolated cytochrome C oxidase deficiency (Orphanet:254905)
MERRF (Orphanet:551)
Mitochondrial DNA deletion syndrome with progressive myopathy (Orphanet:352470)
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency (Orphanet:254864)
Mitochondrial neurogastrointestinal encephalomyopathy (Orphanet:298)
Myopathy, lactic acidosis, and sideroblastic anemia 1; MLASA1 (OMIM:600462)
Necrotizing encephalomyelopathy, subacute, of Leigh, adult (OMIM:161700)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 2 (OMIM:609283)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 3 (OMIM:609286)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 4 (OMIM:610131)
Spinocerebellar ataxia with epilepsy (Orphanet:254881)