Next Generation Sequencing and Electromyography Reveal the Involvement of the P2RX6 Gene in Myopathy.

ABSTRACT: Ion channelopathies result from impaired ion channel protein function, due to mutations affecting ion transport across cell membranes. Over 40 diseases, including neuropathy, pain, migraine, epilepsy, and ataxia, are associated with ion channelopathies, impacting electrically excitable tissues and significantly affecting skeletal muscle. Gene mutations affecting transmembrane ionic flow are strongly linked to skeletal muscle disorders, particularly myopathies, disrupting muscle excitability and contraction. Electromyography (EMG) analysis performed on a patient who complained of weakness and fatigue revealed the presence of primary muscular damage, suggesting an early-stage myopathy. Whole exome sequencing (WES) did not detect potentially causative variants in known myopathy-associated gen

SUBMITTER: Vinci M 

PROVIDER: S-EPMC10887510 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature