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dc.contributor.authorEngland, Eleina
dc.contributor.authorStraub, Volker
dc.contributor.authorDuff, Jennifer
dc.contributor.authorCooper, Sandra T.
dc.contributor.authorMacArthur, Daniel G.
dc.contributor.authorMroczek, Magdalena
dc.contributor.authorDURMUŞ TEKÇE, Hacer
dc.contributor.authorBijarnia-Mahay, Sunita
dc.contributor.authorTopf, Ana
dc.contributor.authorGhaoui, Roula
dc.contributor.authorBryen, Samantha
dc.date.accessioned2021-03-02T19:15:06Z
dc.date.available2021-03-02T19:15:06Z
dc.date.issued2020
dc.identifier.citationMroczek M., DURMUŞ TEKÇE H., Bijarnia-Mahay S., Topf A., Ghaoui R., Bryen S., Duff J., England E., Cooper S. T. , MacArthur D. G. , et al., "Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients", NEUROMUSCULAR DISORDERS, cilt.30, ss.310-314, 2020
dc.identifier.issn0960-8966
dc.identifier.othervv_1032021
dc.identifier.otherav_b4fffb90-7101-4f9d-adf7-ee8f4e0213dc
dc.identifier.urihttp://hdl.handle.net/20.500.12627/5413
dc.identifier.urihttps://doi.org/10.1016/j.nmd.2020.02.006
dc.description.abstractAdenylosuccinate synthase (ADSSL1) is a muscle specific enzyme involved in the purine nucleotide cycle and responsible for the conversion of inosine monophosphate to adenosine monophosphate. Since 2016, when mutations in the ADSSL1 gene were first described to be associated with an adult onset distal myopathy, nine patients with compound heterozygous variants in the ADSSL1 gene, all of Korean origin, have been identified. Here we report a novel ADSSL1 mutation and describe two sporadic cases of Turkish and Indian origin. Many of the clinical features of both patients and muscle histopathology and muscle MRI findings, were in accordance with previously reported findings in the adult onset distal myopathy individuals. However, one of our patients presented with progressive, proximally pronounced weakness, severe muscle atrophy and early contractures. Thus, mutations in ADSSL1 have to be considered in patients with both distal and proximal muscle weakness and across various ethnicities. (C) 2020 Published by Elsevier B.V.
dc.language.isoeng
dc.subjectDahili Tıp Bilimleri
dc.subjectNöroloji
dc.subjectYaşam Bilimleri
dc.subjectTemel Bilimler
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectSinirbilim ve Davranış
dc.subjectNEUROSCIENCES
dc.subjectKlinik Tıp (MED)
dc.subjectKlinik Tıp
dc.subjectKLİNİK NEUROLOJİ
dc.titleExpanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients
dc.typeMakale
dc.relation.journalNEUROMUSCULAR DISORDERS
dc.contributor.departmentNewcastle University - UK , ,
dc.identifier.volume30
dc.identifier.issue4
dc.identifier.startpage310
dc.identifier.endpage314
dc.contributor.firstauthorID2214330


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