Phenotypes associated with the disease Tubular aggregate myopathy (ORPHA:2593):
- Myalgia (HP:0003326): Pain in muscle. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2593)
- Muscle spasm (HP:0003394): Sudden and involuntary contractions of one or more muscles. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2593)
- EMG: myopathic abnormalities (HP:0003458): The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2593)
- Fatigable weakness (HP:0003473): A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2593)
- Fatiguable weakness of proximal limb muscles (HP:0030200): A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2593)
- Muscle fiber tubular inclusions (HP:0100301): Unusual regions of densely packed membranous tubules known as tubular aggregates which present as membranous inclusions, derived from membranes of sarcoplasmic reticulum and mitochondria, containing miscellaneous proteins with a variety of enzymatic activities. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2593)
- Increased variability in muscle fiber diameter (HP:0003557): An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2593)
- Centrally nucleated skeletal muscle fibers (HP:0003687): An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2593)
- Type 2 muscle fiber atrophy (HP:0003554): Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2593)