{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T16:43:04Z","timestamp":1786725784509,"version":"build-2736575974"},"reference-count":15,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"6","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:sec>\n                    <jats:title>Objectives:<\/jats:title>\n                    <jats:p>Clinical spectrum of mitochondrial myopathy extends beyond chronic progressive external ophthalmoplegia (CPEO). While information on encephalomyopathies is abundant, clinical data on predominant myopathic presentation of mitochondrial disorders are lacking.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Materials and Methods:<\/jats:title>\n                    <jats:p>Clinical, electrophysiological, biochemical, and follow-up data of patients with predominant myopathic presentation and muscle biopsy confirmed primary mitochondrial myopathy was obtained. We excluded known syndromes of mitochondrial cytopathies and encephalomyopathies.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      Among 16 patients, 7 had CPEO, 4 had CPEO with limb-girdle muscle weakness (LGMW), and 5 had isolated LGMW. Systemic features included seizures with photosensitivity (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 3), diabetes (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 1), cardiomyopathy (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 1), and sensorineural hearing loss (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 1) and were more common in isolated LGMW. Elevated serum creatine kinase (CK) and lactate levels and electromyography (EMG) myopathic potentials were more frequent with LGMW. During follow-up, LGMW had more severe progression of weakness.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>We identified three subsets of mitochondrial myopathy with distinct clinical features and evolutionary patterns. Isolated LGMW was seen in 30% of patients and would represent severe end of the spectrum.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/0028-3886.391399","type":"journal-article","created":{"date-parts":[[2024,1,3]],"date-time":"2024-01-03T11:05:24Z","timestamp":1704279924000},"page":"1192-1196","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":2,"title":["Clinical Spectrum of Biopsy Proven Mitochondrial Myopathy"],"prefix":"10.4103","volume":"71","author":[{"given":"Deepak","family":"Menon","sequence":"first","affiliation":[{"name":"Department of Neurology, SCTIMST, Trivandrum, Kerala, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sruthi S","family":"Nair","sequence":"additional","affiliation":[{"name":"Department of Neurology, SCTIMST, Trivandrum, Kerala, 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