Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 10 (LGMD,10), Caused by a Novel Homozygous Variant in the TTN Gene
Omar Ahmed Alghamdi,1 Osama Obaid,2 Ahmed Gamal Sayed,3 Hania Farhan,3 Jamal Sayed1 1Department of Pediatrics, Security Forces Hospital Makkah, (SFHM), Makkah, Saudi Arabia; 2Department of Pediatrics, Maternity and Children Hospital, Makkah, Saudi Arabia; 3College of Medicine, Alfaisal University, R...
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Dove Medical Press
2025-06-01
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| Series: | International Medical Case Reports Journal |
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| author | Alghamdi OA Obaid O Sayed AG Farhan H Sayed J |
| author_facet | Alghamdi OA Obaid O Sayed AG Farhan H Sayed J |
| author_sort | Alghamdi OA |
| collection | DOAJ |
| description | Omar Ahmed Alghamdi,1 Osama Obaid,2 Ahmed Gamal Sayed,3 Hania Farhan,3 Jamal Sayed1 1Department of Pediatrics, Security Forces Hospital Makkah, (SFHM), Makkah, Saudi Arabia; 2Department of Pediatrics, Maternity and Children Hospital, Makkah, Saudi Arabia; 3College of Medicine, Alfaisal University, Riyadh, 11533, Saudi ArabiaCorrespondence: Omar Ahmed Alghamdi, Email oaalghamdi@sfhm.med.saAbstract: Limb-girdle muscular dystrophy was first introduced in the 1950s as a distinct family of unusual genetic diseases. The prevalence of the disease is about 4– 7/1000, with a spectrum of onset at different ages. LGMD has a cluster of symptoms varying in severity and presentation in patients. Limb-girdle muscular dystrophy`s inheritance is unique as it can be autosomal dominant or recessive. We report a young boy with autosomal recessive limb-girdle muscular dystrophy (LGMD), presented with distal muscle weakness in all four limbs for three years and thinning of legs, arms, and thighs. Our gene of focus is TTN, which is associated with muscle elasticity and myogenesis. Our subtype reported is currently associated with a new homozygous TTN variant; thus, we are writing a novel variant mutation causing limb-girdle muscular dystrophy type 10.Keywords: LGMD, muscular dystrophies, TTN gene, titinopathy |
| format | Article |
| id | doaj-art-cf9bcdbf0f6547b882fb8d55e8d0c14d |
| institution | Matheson Library |
| issn | 1179-142X |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Dove Medical Press |
| record_format | Article |
| series | International Medical Case Reports Journal |
| spelling | doaj-art-cf9bcdbf0f6547b882fb8d55e8d0c14d2025-06-25T21:33:46ZengDove Medical PressInternational Medical Case Reports Journal1179-142X2025-06-01Volume 18Issue 1683689103566Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 10 (LGMD,10), Caused by a Novel Homozygous Variant in the TTN GeneAlghamdi OA0Obaid O1Sayed AGFarhan H2Sayed J3PaediatricspaediatricsMedicinepaediatric departmentOmar Ahmed Alghamdi,1 Osama Obaid,2 Ahmed Gamal Sayed,3 Hania Farhan,3 Jamal Sayed1 1Department of Pediatrics, Security Forces Hospital Makkah, (SFHM), Makkah, Saudi Arabia; 2Department of Pediatrics, Maternity and Children Hospital, Makkah, Saudi Arabia; 3College of Medicine, Alfaisal University, Riyadh, 11533, Saudi ArabiaCorrespondence: Omar Ahmed Alghamdi, Email oaalghamdi@sfhm.med.saAbstract: Limb-girdle muscular dystrophy was first introduced in the 1950s as a distinct family of unusual genetic diseases. The prevalence of the disease is about 4– 7/1000, with a spectrum of onset at different ages. LGMD has a cluster of symptoms varying in severity and presentation in patients. Limb-girdle muscular dystrophy`s inheritance is unique as it can be autosomal dominant or recessive. We report a young boy with autosomal recessive limb-girdle muscular dystrophy (LGMD), presented with distal muscle weakness in all four limbs for three years and thinning of legs, arms, and thighs. Our gene of focus is TTN, which is associated with muscle elasticity and myogenesis. Our subtype reported is currently associated with a new homozygous TTN variant; thus, we are writing a novel variant mutation causing limb-girdle muscular dystrophy type 10.Keywords: LGMD, muscular dystrophies, TTN gene, titinopathyhttps://www.dovepress.com/autosomal-recessive-limb-girdle-muscular-dystrophy-type-10-lgmd10-caus-peer-reviewed-fulltext-article-IMCRJLGMDmuscular dystrophiesTTN genetitinopathy |
| spellingShingle | Alghamdi OA Obaid O Sayed AG Farhan H Sayed J Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 10 (LGMD,10), Caused by a Novel Homozygous Variant in the TTN Gene International Medical Case Reports Journal LGMD muscular dystrophies TTN gene titinopathy |
| title | Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 10 (LGMD,10), Caused by a Novel Homozygous Variant in the TTN Gene |
| title_full | Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 10 (LGMD,10), Caused by a Novel Homozygous Variant in the TTN Gene |
| title_fullStr | Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 10 (LGMD,10), Caused by a Novel Homozygous Variant in the TTN Gene |
| title_full_unstemmed | Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 10 (LGMD,10), Caused by a Novel Homozygous Variant in the TTN Gene |
| title_short | Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 10 (LGMD,10), Caused by a Novel Homozygous Variant in the TTN Gene |
| title_sort | autosomal recessive limb girdle muscular dystrophy type 10 lgmd 10 caused by a novel homozygous variant in the ttn gene |
| topic | LGMD muscular dystrophies TTN gene titinopathy |
| url | https://www.dovepress.com/autosomal-recessive-limb-girdle-muscular-dystrophy-type-10-lgmd10-caus-peer-reviewed-fulltext-article-IMCRJ |
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