Sarcotubular Myopathy Due to Novel <i>TRIM32</i> Mutation in Association with Multiple Sclerosis
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 2–3 in the lower extremities), difficulty in stair lifting, positive symptom of Hoover’s rising, «waddling gait», decline deep reflexes sym...
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MDPI AG
2021-07-01
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| Series: | Brain Sciences |
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| author | Margarita Marchuk Tetiana Dovbonos Halyna Makukh Orest Semeryak Yevheniya Sharhorodska |
| author_facet | Margarita Marchuk Tetiana Dovbonos Halyna Makukh Orest Semeryak Yevheniya Sharhorodska |
| author_sort | Margarita Marchuk |
| collection | DOAJ |
| description | 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 2–3 in the lower extremities), difficulty in stair lifting, positive symptom of Hoover’s rising, «waddling gait», decline deep reflexes symmetrical, lack of surface reflexes, positive Babinsky’s 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 > T (p.Pro619Ser) in <i>TRIM32</i> gene and heterozygous VUS c.2300C > G (p.Thr767Arg) in <i>KIF5A</i>, c.2840G > A (p.Arg947Lys) in <i>MYH2</i>, c.1502G > C (p.Gly501Ala) in <i>POMT1</i> genes. Comparison of the phenotypes of the mutations that have been identified with the clinical picture of the patient suggests that VUS c.1855C > T (p.Pro619Ser) in the <i>TRIM32</i> gene can be pathological. Summarizing, it can be argued that the cause of the identified disorders is a homozygous variant c.1855C > T (p.Pro619Ser) in <i>TRIM32</i> gene that causes LGMDR8 in a patient with MS. |
| first_indexed | 2024-03-10T08:58:41Z |
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| language | English |
| last_indexed | 2024-03-10T08:58:41Z |
| publishDate | 2021-07-01 |
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| series | Brain Sciences |
| spelling | doaj.art-aada3b470a86420a9d03ae43141fc2112023-11-22T06:58:50ZengMDPI AGBrain Sciences2076-34252021-07-01118102010.3390/brainsci11081020Sarcotubular Myopathy Due to Novel <i>TRIM32</i> Mutation in Association with Multiple SclerosisMargarita Marchuk0Tetiana Dovbonos1Halyna Makukh2Orest Semeryak3Yevheniya Sharhorodska4Department of Neurology №2, Kyiv City Clinical Hospital №4, 03110 Kiev, UkraineDepartment of Neurology, O.O. Bogomolets National Medical University, 13 Shevchenko Blvd., 01601 Kyiv, UkraineInstitute of Hereditary Pathology of National Academy of Medical Sciences of Ukraine, 31A Lysenka Str., 79008 Lviv, UkraineCenter for Neuromuscular and Peripheral Nervous System Diseases, Lviv Regional Clinical Hospital, 7 Chernihivska Str., 79010 Lviv, UkraineInstitute of Hereditary Pathology of National Academy of Medical Sciences of Ukraine, 31A Lysenka Str., 79008 Lviv, UkraineAzerbaijani 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 2–3 in the lower extremities), difficulty in stair lifting, positive symptom of Hoover’s rising, «waddling gait», decline deep reflexes symmetrical, lack of surface reflexes, positive Babinsky’s 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 > T (p.Pro619Ser) in <i>TRIM32</i> gene and heterozygous VUS c.2300C > G (p.Thr767Arg) in <i>KIF5A</i>, c.2840G > A (p.Arg947Lys) in <i>MYH2</i>, c.1502G > C (p.Gly501Ala) in <i>POMT1</i> genes. Comparison of the phenotypes of the mutations that have been identified with the clinical picture of the patient suggests that VUS c.1855C > T (p.Pro619Ser) in the <i>TRIM32</i> gene can be pathological. Summarizing, it can be argued that the cause of the identified disorders is a homozygous variant c.1855C > T (p.Pro619Ser) in <i>TRIM32</i> gene that causes LGMDR8 in a patient with MS.https://www.mdpi.com/2076-3425/11/8/1020LGMD2HLGMD R8Limb-Girdle Muscular Dystrophy 2Hsarcotubular myopathyTRIM32muscular dystrophy |
| spellingShingle | Margarita Marchuk Tetiana Dovbonos Halyna Makukh Orest Semeryak Yevheniya Sharhorodska Sarcotubular Myopathy Due to Novel <i>TRIM32</i> Mutation in Association with Multiple Sclerosis Brain Sciences LGMD2H LGMD R8 Limb-Girdle Muscular Dystrophy 2H sarcotubular myopathy TRIM32 muscular dystrophy |
| title | Sarcotubular Myopathy Due to Novel <i>TRIM32</i> Mutation in Association with Multiple Sclerosis |
| title_full | Sarcotubular Myopathy Due to Novel <i>TRIM32</i> Mutation in Association with Multiple Sclerosis |
| title_fullStr | Sarcotubular Myopathy Due to Novel <i>TRIM32</i> Mutation in Association with Multiple Sclerosis |
| title_full_unstemmed | Sarcotubular Myopathy Due to Novel <i>TRIM32</i> Mutation in Association with Multiple Sclerosis |
| title_short | Sarcotubular Myopathy Due to Novel <i>TRIM32</i> Mutation in Association with Multiple Sclerosis |
| title_sort | sarcotubular myopathy due to novel i trim32 i mutation in association with multiple sclerosis |
| topic | LGMD2H LGMD R8 Limb-Girdle Muscular Dystrophy 2H sarcotubular myopathy TRIM32 muscular dystrophy |
| url | https://www.mdpi.com/2076-3425/11/8/1020 |
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