mitochondrial myopathy

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Information
Disease name
mitochondrial myopathy
Disease ID
DOID:699
Description
"A myopathy that is characterized by mitochondrial dysfunction." [url:http\://en.wikipedia.org/wiki/Mitochondrial_myopathies, url:http\://www.ninds.nih.gov/disorders/mitochondrial_myopathy/mitochondrial_myopathy.htm]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
NCT ID Status Phase Summary Start date Completion date
NCT00004353 Completed Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic Acidemia December 1978
NCT00004770 Completed N/A Pilot Compassionate Use Study of Thioctic Acid Treatment in Mitochondrial Myopathy October 1995
NCT02367014 Completed Phase 1/Phase 2 Safety, Tolerability, and Efficacy of MTP-131 for the Treatment of Mitochondrial Myopathy February 2015 April 2016
NCT02895789 Completed Oxidative Capacity and Exercise Tolerance in Ambulatory SMA November 2016 January 2021
NCT05590468 Recruiting Phase 2 A Study to Evaluate Vitamin B3 Derivative to Treat Mitochondrial Myopathy May 26, 2023 November 2025
NCT00457314 Unknown status Phase 2 The Effects of Exercise Versus Inactivity on People With Mitochondrial Muscle Disease June 2007 June 2012
Disase is a (Disease Ontology)
DOID:423
Cross Reference ID (Disease Ontology)
MESH:D017240
Cross Reference ID (Disease Ontology)
MIM:251900
Cross Reference ID (Disease Ontology)
NCI:C101328
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:240096000
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0162670
Exact Synonym (Disease Ontology)
mitochondrial cytopathy
HPO alt_id (Human Phenotype Ontology)
HP:0008960
HPO Human Phenotype ID (Human Phenotype Ontology)
HP:0003737
MedGen concept unique identifier (MedGen Concept name)
C0162670
MedGen unique identifier (MedGen Concept name)
56484