{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T03:58:50Z","timestamp":1773115130660,"version":"3.50.1"},"reference-count":28,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2021,7,31]],"date-time":"2021-07-31T00:00:00Z","timestamp":1627689600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Brain Sciences"],"abstract":"<jats:p>Azerbaijani 28-year-old female showed weakness (MRC (Medical Research Council Scale for Muscle Strength) grade 4 in the proximal part of the upper and MRC grade 2\u20133 in the lower extremities), difficulty in stair lifting, positive symptom of Hoover\u2019s rising, \u00abwaddling gait\u00bb, decline deep reflexes symmetrical, lack of surface reflexes, positive Babinsky\u2019s reflex on the right, urinary incontinence during sneezing, prolonged walking and exercise from puberty. Additional methods made it possible to identify minor violations of conduction of the left ventricle, electromyography signs of primary muscular disease with predominant involvement of the proximal muscles of the lower extremities, elevation of serum creatine kinase (746.81 U\/l), active foci of demyelination in the left frontal lobe, intrathecal synthesis of oligoclonal IgG bands (type 2) in cerebrospinal fluid, atrophy and fatty degeneration of all muscles of the shins, homozygous Variant of Uncertain Significance (VUS) c.1855C &gt; T (p.Pro619Ser) in TRIM32 gene and heterozygous VUS c.2300C &gt; G (p.Thr767Arg) in KIF5A, c.2840G &gt; A (p.Arg947Lys) in MYH2, c.1502G &gt; C (p.Gly501Ala) in POMT1 genes. Comparison of the phenotypes of the mutations that have been identified with the clinical picture of the patient suggests that VUS c.1855C &gt; T (p.Pro619Ser) in the TRIM32 gene can be pathological. Summarizing, it can be argued that the cause of the identified disorders is a homozygous variant c.1855C &gt; T (p.Pro619Ser) in TRIM32 gene that causes LGMDR8 in a patient with MS.<\/jats:p>","DOI":"10.3390\/brainsci11081020","type":"journal-article","created":{"date-parts":[[2021,8,1]],"date-time":"2021-08-01T21:51:07Z","timestamp":1627854667000},"page":"1020","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Sarcotubular Myopathy Due to Novel TRIM32 Mutation in Association with Multiple Sclerosis"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3767-3669","authenticated-orcid":false,"given":"Margarita","family":"Marchuk","sequence":"first","affiliation":[{"name":"Department of Neurology \u21162, Kyiv City Clinical Hospital \u21164, 03110 Kiev, Ukraine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1905-8662","authenticated-orcid":false,"given":"Tetiana","family":"Dovbonos","sequence":"additional","affiliation":[{"name":"Department of Neurology, O.O. Bogomolets National Medical University, 13 Shevchenko Blvd., 01601 Kyiv, Ukraine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Halyna","family":"Makukh","sequence":"additional","affiliation":[{"name":"Institute of Hereditary Pathology of National Academy of Medical Sciences of Ukraine, 31A Lysenka Str., 79008 Lviv, Ukraine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Orest","family":"Semeryak","sequence":"additional","affiliation":[{"name":"Center for Neuromuscular and Peripheral Nervous System Diseases, Lviv Regional Clinical Hospital, 7 Chernihivska Str., 79010 Lviv, Ukraine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yevheniya","family":"Sharhorodska","sequence":"additional","affiliation":[{"name":"Institute of Hereditary Pathology of National Academy of Medical Sciences of Ukraine, 31A Lysenka Str., 79008 Lviv, Ukraine"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,7,31]]},"reference":[{"key":"ref_1","first-page":"8","article-title":"Novel TRIM32 mutation in sarcotubular myopathy","volume":"38","author":"Panicucci","year":"2019","journal-title":"Acta Myol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1086\/339083","article-title":"Limb-Girdle Muscular Dystrophy Type 2H Associated with Mutation in TRIM32, a Putative E3-Ubiquitin\u2013Ligase Gene","volume":"70","author":"Frosk","year":"2002","journal-title":"Am. 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