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Muscle abnormality related to mitochondrial dysfunction

MedGen UID:: 871101
•Concept ID:: C4025566
•: Anatomical Abnormality

HPO:	HP:0003800

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVMuscle abnormality related to mitochondrial dysfunction

Phenotypic abnormality
- Abnormality of the musculoskeletal system
  - Abnormality of the musculature
    - Abnormal muscle physiology
      - Muscle abnormality related to mitochondrial dysfunction
        Cytochrome C oxidase-negative muscle fibers
        Depletion of mitochondrial DNA in muscle tissue
        Multiple mitochondrial DNA deletions
        Inborn mitochondrial myopathy
        3-Methylglutaconic aciduria type 2
        Adenosine monophosphate deaminase deficiency
        Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
        Autosomal dominant mitochondrial myopathy with exercise intolerance
        Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
        Kearns-Sayre syndrome
        Lethal infantile mitochondrial myopathy
        Maternally-inherited progressive external ophthalmoplegia
        MELAS syndrome
        MERRF syndrome
        Mitochondrial complex I deficiency
        Mitochondrial complex 1 deficiency, mitochondrial type 1
        Mitochondrial complex I deficiency, nuclear type 1
        Mitochondrial complex II deficiency, nuclear type 1
        Mitochondrial DNA deletion syndrome with progressive myopathy
        Mitochondrial DNA depletion syndrome 11
        Mitochondrial DNA depletion syndrome, myopathic form
        Mitochondrial encephalomyopathy
        Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
        Mitochondrial myopathy-lactic acidosis-deafness syndrome
        Mitochondrial neurogastrointestinal encephalomyopathy
        Mitochondrial trifunctional protein deficiency
        Myopathy, lactic acidosis, and sideroblastic anemia
        Myopathy, lactic acidosis, and sideroblastic anemia 1
        Myopathy, lactic acidosis, and sideroblastic anemia 2
        Progressive external ophthalmoplegia
        Autosomal dominant progressive external ophthalmoplegia
        Autosomal recessive progressive external ophthalmoplegia
        Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
        Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
        Subsarcolemmal accumulations of abnormally shaped mitochondria

Professional guidelines

PubMed

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