| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
Show
|
| HP:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
Show
|
| HP:0001924 | Sideroblastic anemia | |
Show
|
| HP:0001962 | Palpitations | |
Show
|
| HP:0002094 | Dyspnea | |
Show
|
| HP:0002151 | Increased serum lactate | "Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism." [HPO:curators] |
Show
|
| HP:0002913 | Myoglobinuria | |
Show
|
| HP:0003128 | Lactic acidemia | "An abnormal buildup of `lactic acid` (CHEBI:28358) in the body, leading to `acidification` (GO:0045851) of the blood." [HPO:probinson] |
Show
|
| HP:0003198 | Myopathy | |
Show
|
| HP:0003201 | Rhabdomyolysis | |
Show
|
| HP:0003236 | Elevated serum creatine phosphokinase | |
Show
|
| HP:0003394 | Muscle cramps | |
Show
|
| HP:0003546 | Exercise intolerance | |
Show
|
| HP:0003548 | Electron microscopy shows subsarcolemmal accumulations of abnormally shaped mitochondria | |
Show
|
| HP:0003621 | Juvenile onset | |
Show
|
| HP:0003737 | Mitochondrial myopathy | |
Show
|
| HP:0008306 | Abnormal iron deposition in mitochondria | |
Show
|
| HP:0008314 | Decreased activity of mitochondrial complex ii | |
Show
|
| HP:0011923 | Decreased activity of mitochondrial complex I | "A reduction in the activity of the `mitochondrial respiratory chain complex I` (GO:0005747), which is part of the electron transport chain in mitochondria." [HPO:probinson] |
Show
|
| HP:0011924 | Decreased activity of mitochondrial complex III | "A reduction in the activity of the `mitochondrial respiratory chain complex III` (GO:0005750), which is part of the electron transport chain in mitochondria." [HPO:probinson] |
Show
|
| HP:0012240 | Increased intramyocellular lipid droplets | "An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See pmid 20691590 for histological images." [HPO:probinson, pmid:20691590] |
Show
|
