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GTR Home > Conditions/Phenotypes > Vacuolar Neuromyopathy

Vacuolar Neuromyopathy

Summary

Autosomal dominant myopathy with rimmed ubiquitin-positive autophagic vacuolation (MRUPAV) is characterized by adult onset of slowly progressive skeletal muscle weakness variably affecting the distal or proximal lower limbs. Some patients may also have upper limb involvement or neck muscle weakness, but respiratory and bulbar involvement only rarely occurs. EMG studies show a myopathic process, and myotonia may also be observed. Skeletal muscle biopsy shows myopathic features, rimmed vacuoles, and abnormal subsarcolemmal protein aggregation with activation of the autophagy pathway (Ruggieri et al., 2020). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: KIAA1881, MDRV, MRUPAV, NIPA2, S3-12, PLIN4
    Summary: perilipin 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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