MITOCHONDRIAL MYOPATHY WITH A DEFECT IN MITOCHONDRIAL-PROTEIN TRANSPORT
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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8
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OrphanetNr:
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OMIM Id:
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251945
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ICD-10:
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UMLs:
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MeSH:
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MedDRA:
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Snomed:
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Prevalence, inheritance and age of onset:
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Prevalence:
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No data available.
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Inheritance:
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Autosomal recessive inheritance
[Omim]
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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No data available.
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1
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(HPO:0001939)
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Abnormality of metabolism/homeostasis |
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328 / 7739
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2
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(HPO:0003546)
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Exercise intolerance |
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62 / 7739
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3
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(HPO:0001324)
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Muscle weakness |
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859 / 7739
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4
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(HPO:0003737)
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Mitochondrial myopathy |
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18 / 7739
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5
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(HPO:0000007)
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Autosomal recessive inheritance |
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2538 / 7739
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6
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(OMIM)
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Defective transport of the Rieske protein into mitochondria |
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1 / 7739
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7
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(OMIM)
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Deficiency of respiratory-chain Complexes I to IV |
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1 / 7739
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8
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(OMIM)
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Mitochondrial deficiencies of both the iron-sulfur protein of Complex III ('Rieske' protein) and the 27.2-kD subunit of succinate dehydrogenase |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |