Subsarcolemmal accumulations of abnormally shaped mitochondria

Symptom Information:

Symptom ID: HPO:0003548
Synonyms:
Subsarcolemmal accumulations of abnormally shaped mitochondria (on electron microscopy) [OMIM:Subsarcolemmal accumulations of abnormally shaped mitochondria (on electron microscopy)]
Quality:
Cross references:
OMIM: "Subsarcolemmal accumulations of abnormally shaped mitochondria (on electron microscopy)" [OMIM:Subsarcolemmal accumulations of abnormally shaped mitochondria (on electron microscopy)]
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)
             Subsarcolemmal accumulations of abnormally shaped mitochondria(HPO:0003548)
MedDRA:
Database Frequency: 9 / 7739
Resource:

All diseases associated with this symptom:

Autosomal dominant progressive external ophthalmoplegia (Orphanet:254892)
Autosomal recessive progressive external ophthalmoplegia (Orphanet:254886)
Hereditary myopathy with lactic acidosis due to ISCU deficiency (Orphanet:43115)
Leigh syndrome with leukodystrophy (Orphanet:255241)
Leigh syndrome with nephrotic syndrome (Orphanet:255249)
Mitochondrial neurogastrointestinal encephalomyopathy (Orphanet:298)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 2 (OMIM:609283)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 3 (OMIM:609286)
Spinocerebellar ataxia with epilepsy (Orphanet:254881)