Limb-girdle Muscular Dystrophy Type 2A with Mutation in CAPN3: The First Report in Taiwan
The autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is caused by mutations in the calpain 3 (CAPN3) gene, and it is characterized by selective atrophy and weakness of proximal limb and girdle muscles. We report a 33-year-old woman with initial presentations of exercise intoleranc...
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Elsevier
2015-02-01
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| Series: | Pediatrics and Neonatology |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S1875957213000193 |
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| author | Chien-Hua Wang Wen-Chen Liang Narihiro Minami Ichizo Nishino Yuh-Jyh Jong |
| author_facet | Chien-Hua Wang Wen-Chen Liang Narihiro Minami Ichizo Nishino Yuh-Jyh Jong |
| author_sort | Chien-Hua Wang |
| collection | DOAJ |
| description | The autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is caused by mutations in the calpain 3 (CAPN3) gene, and it is characterized by selective atrophy and weakness of proximal limb and girdle muscles. We report a 33-year-old woman with initial presentations of exercise intolerance and running difficulty at age 15 years. At presentation, waddling gait, positive Gowers' sign, and marked muscle atrophy in pelvic and leg muscles were noted. Muscle computed tomography (CT) imaging demonstrated symmetric involvement of the posterior thigh muscles with relative sparing of vastus lateralis, sartorius, and gracilis. Muscle biopsy revealed a dystrophic change and many lobulated fibers on NADH-tetrazolium reductase staining. Genetic analysis of the CAPN3 gene identified a novel homozygous mutation of c2047_2050 del4, p.Lys683fs mutation, confirming the first LGMD2A patient in Taiwan. |
| format | Article |
| id | doaj-art-4702c33d9d4a479bb09acdada3f39a65 |
| institution | DOAJ |
| issn | 1875-9572 |
| language | English |
| publishDate | 2015-02-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Pediatrics and Neonatology |
| spelling | doaj-art-4702c33d9d4a479bb09acdada3f39a652025-08-20T02:39:19ZengElsevierPediatrics and Neonatology1875-95722015-02-01561626510.1016/j.pedneo.2013.01.018Limb-girdle Muscular Dystrophy Type 2A with Mutation in CAPN3: The First Report in TaiwanChien-Hua Wang0Wen-Chen Liang1Narihiro Minami2Ichizo Nishino3Yuh-Jyh Jong4Department of Pediatrics, Antai Medical Care Cooperation, Antai Tian-Sheng Memorial Hospital, Ping-Tung, TaiwanDepartment of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, TaiwanDepartment of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, JapanDepartment of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, JapanDepartment of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, TaiwanThe autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is caused by mutations in the calpain 3 (CAPN3) gene, and it is characterized by selective atrophy and weakness of proximal limb and girdle muscles. We report a 33-year-old woman with initial presentations of exercise intolerance and running difficulty at age 15 years. At presentation, waddling gait, positive Gowers' sign, and marked muscle atrophy in pelvic and leg muscles were noted. Muscle computed tomography (CT) imaging demonstrated symmetric involvement of the posterior thigh muscles with relative sparing of vastus lateralis, sartorius, and gracilis. Muscle biopsy revealed a dystrophic change and many lobulated fibers on NADH-tetrazolium reductase staining. Genetic analysis of the CAPN3 gene identified a novel homozygous mutation of c2047_2050 del4, p.Lys683fs mutation, confirming the first LGMD2A patient in Taiwan.http://www.sciencedirect.com/science/article/pii/S1875957213000193CAPN3limb-girdle muscular dystrophy type 2Alobulated fibers |
| spellingShingle | Chien-Hua Wang Wen-Chen Liang Narihiro Minami Ichizo Nishino Yuh-Jyh Jong Limb-girdle Muscular Dystrophy Type 2A with Mutation in CAPN3: The First Report in Taiwan Pediatrics and Neonatology CAPN3 limb-girdle muscular dystrophy type 2A lobulated fibers |
| title | Limb-girdle Muscular Dystrophy Type 2A with Mutation in CAPN3: The First Report in Taiwan |
| title_full | Limb-girdle Muscular Dystrophy Type 2A with Mutation in CAPN3: The First Report in Taiwan |
| title_fullStr | Limb-girdle Muscular Dystrophy Type 2A with Mutation in CAPN3: The First Report in Taiwan |
| title_full_unstemmed | Limb-girdle Muscular Dystrophy Type 2A with Mutation in CAPN3: The First Report in Taiwan |
| title_short | Limb-girdle Muscular Dystrophy Type 2A with Mutation in CAPN3: The First Report in Taiwan |
| title_sort | limb girdle muscular dystrophy type 2a with mutation in capn3 the first report in taiwan |
| topic | CAPN3 limb-girdle muscular dystrophy type 2A lobulated fibers |
| url | http://www.sciencedirect.com/science/article/pii/S1875957213000193 |
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