{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T07:26:18Z","timestamp":1792481178261,"version":"4.5.0"},"reference-count":9,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2024,12,8]],"date-time":"2024-12-08T00:00:00Z","timestamp":1733616000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2024,12,8]],"date-time":"2024-12-08T00:00:00Z","timestamp":1733616000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2025,3]]},"abstract":"\n Introduction:<\/jats:title>\n \n Congenital myopathies are a group of heterogenous inherited muscle diseases. With advances in genetics, newer genes with novel features are being described. Pyridine nucleotide-disulfide oxidoreductase domain 1 (\n PYROXD1<\/jats:italic>\n ) related myopathy is an ultrarare congenital myopathy. Only few cases have been reported worldwide till now. We report the first interesting case of\n PYROXD1<\/jats:italic>\n related myopathy from India.\n <\/jats:p>\n <\/jats:sec>\n \n Methods:<\/jats:title>\n This is a retrospective study done from a quaternary neurology referral centre from southern India. All clinical, laboratory and electrophysiological data were collected from the medical records. Institutional ethics approval and informed consent from patient were obtained.<\/jats:p>\n <\/jats:sec>\n \n Results:<\/jats:title>\n \n A 9 year-old-boy of non-consanguineous parentage presented with progressive fatigable proximo-distal weakness of upper and lower limbs with facial weakness from the age of 4 years. This was followed by chewing and swallowing difficulty. However speech was normal. There was profound proximal and distal joint hyperextensibility along with hip and ankle contractures. There was facial dysmorphism with high arched palate and retrognathism. Investigations showed normal serum creatine kinase levels. Nerve conduction studies showed axonal sensorimotor neuropathy. There was significant decremental response in tibialis anterior. Muscle biopsy showed both myopathic and neurogenic changes with novel findings of mitochondrial aggregates in subsarcolemmal and perinuclear regions. Next generation sequencing revealed a missense variant NM_024854.5:c.394C\u2009>\u2009T (NP_079130.2:p.Arg132Cys) of uncertain significance in exon 4 of\n PYROXD1<\/jats:italic>\n gene.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion:<\/jats:title>\n \n This is the first report of\n PYROXD1<\/jats:italic>\n related myopathy from India. There were novel features of muscle fatigability, contractures, novel muscle biopsy features and a variant of uncertain significance expanding the phenotypic and genotypic spectrum of this rare myopathy.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1177\/22143602241301635","type":"journal-article","created":{"date-parts":[[2024,12,8]],"date-time":"2024-12-08T16:46:06Z","timestamp":1733676366000},"page":"293-300","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["A rare case of myopathy with fatigability due to\n PYROXD1<\/i>\n variation"],"prefix":"10.1177","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8362-7380","authenticated-orcid":false,"given":"Dipti","family":"Baskar","sequence":"first","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2867-8935","authenticated-orcid":false,"given":"Aneesha","family":"Thomas","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vijay Kumar","family":"Boddu","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rashmi","family":"Santhoshkumar","sequence":"additional","affiliation":[{"name":"Department of Neuropathology, National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ram Murthy","family":"Anjanappa","sequence":"additional","affiliation":[{"name":"Medgenome Laboratory, Bengaluru, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saraswati","family":"Nashi","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kosha","family":"Srivastava","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiran","family":"Polavarapu","sequence":"additional","affiliation":[{"name":"Department of Medicine, The Ottawa Hospital, Children's Hospital of Eastern Ontario Research Institute, University of Ottawa and Division of Neurology, Ottawa, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gautham","family":"Arunachal","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ananthapadmanabha","family":"Kotambail","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bhoomika","family":"Rao","sequence":"additional","affiliation":[{"name":"Department of Speech and Audiology, National Institute of Mental Health and Neurosciences, Bengaluru, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Mahadevan","sequence":"additional","affiliation":[{"name":"Department of Neuropathology, National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atchayaram","family":"Nalini","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0629-9221","authenticated-orcid":false,"given":"Seena","family":"Vengalil","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2024,12,8]]},"reference":[{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.1186\/s40478-018-0589-y"},{"key":"e_1_3_4_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.09.005"},{"key":"e_1_3_4_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0079-6603(04)78003-4"},{"key":"e_1_3_4_5_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddad035"},{"key":"e_1_3_4_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-018-9137-8"},{"key":"e_1_3_4_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62148"},{"key":"e_1_3_4_8_2","doi-asserted-by":"publisher","DOI":"10.1186\/s40478-019-0781-8"},{"key":"e_1_3_4_9_2","doi-asserted-by":"publisher","DOI":"10.1152\/physiolgenomics.00036.2018"},{"key":"e_1_3_4_10_2","doi-asserted-by":"publisher","DOI":"10.1111\/neup.12641"}],"container-title":["Journal of Neuromuscular 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