Phenotypes associated with the disease metabolic myopathy due to lactate transporter defect (OMIM:245340):
- Elevated circulating creatine kinase activity (HP:0003236): The activity of creatine kinase in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 5/5. (PMID:10590411)
- Exercise-induced muscle fatigue (HP:0009020): An abnormally increased tendency towards muscle fatigue induced by physical exercise. Evidence: PCS. (PMID:10590411)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:10590411)
- Exercise-induced muscle cramps (HP:0003710): Sudden and involuntary contractions of one or more muscles brought on by physical exertion. Evidence: PCS. (PMID:10590411)
- Exercise-induced muscle stiffness (HP:0008967): A type of muscle stiffness that occurs following physical exertion. Evidence: PCS. (PMID:10590411)
- EMG abnormality (HP:0003457): Abnormal results of investigations using electromyography (EMG). Evidence: PCS. Frequency: 0/5. (PMID:10590411)