A case report: autosomal recessive Myotonia congenita caused by a novel splice mutation (c.1401 + 1G > A) in CLCN1 gene of a Chinese Han patient
Abstract Background Autosomal recessive Myotonia congenita (Becker’s disease) is caused by mutations in the CLCN1 gene. The condition is characterized by muscle stiffness during sustained muscle contraction and variable degree of muscle weakness that tends to improve with repeated contractions. Case...
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BMC
2018-09-01
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| Series: | BMC Neurology |
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| Online Access: | http://link.springer.com/article/10.1186/s12883-018-1153-x |
| _version_ | 1818033887138283520 |
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| author | Jing Miao Xiao-jing Wei Xue-mei Liu Zhi-xia Kang Yan-lu Gao Xue-fan Yu |
| author_facet | Jing Miao Xiao-jing Wei Xue-mei Liu Zhi-xia Kang Yan-lu Gao Xue-fan Yu |
| author_sort | Jing Miao |
| collection | DOAJ |
| description | Abstract Background Autosomal recessive Myotonia congenita (Becker’s disease) is caused by mutations in the CLCN1 gene. The condition is characterized by muscle stiffness during sustained muscle contraction and variable degree of muscle weakness that tends to improve with repeated contractions. Case presentation A 21-year-old man presented with transient muscle stiffness since the last 10 years. He had difficulty in initiating movement and experienced muscle weakness after rest, which typically improved after repeated contraction (warm-up phenomenon). There was no significant family history. Medical examination showed generalized muscle hypertrophy. Serum creatine kinase level was 2-fold higher than the normal value. Electromyogram showed myotonic discharges. DNA sequence analysis identified a novel splice mutation (c.1401 + 1G > A) and a known mutation (c.1657A > T,p.Ile553Phe). He rapidly responded to treatment with mexiletine 100 mg three times a day for 6 months. Conclusions This case report of autosomal recessive Myotonia congenita caused by a novel compound heterozygous mutation expands the genotypic spectrum of CLCN1 gene. |
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| institution | Directory Open Access Journal |
| issn | 1471-2377 |
| language | English |
| last_indexed | 2024-12-10T06:30:24Z |
| publishDate | 2018-09-01 |
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| series | BMC Neurology |
| spelling | doaj.art-6c699af1d7d4443784cdba2ecd2039532022-12-22T01:59:05ZengBMCBMC Neurology1471-23772018-09-011811310.1186/s12883-018-1153-xA case report: autosomal recessive Myotonia congenita caused by a novel splice mutation (c.1401 + 1G > A) in CLCN1 gene of a Chinese Han patientJing Miao0Xiao-jing Wei1Xue-mei Liu2Zhi-xia Kang3Yan-lu Gao4Xue-fan Yu5Department of Neurology and Neuroscience Center, the First Affiliated Hospital of Jilin UniversityDepartment of Neurology and Neuroscience Center, the First Affiliated Hospital of Jilin UniversityDepartment of Neurology and Neuroscience Center, the First Affiliated Hospital of Jilin UniversityDepartment of Neurology and Neuroscience Center, the First Affiliated Hospital of Jilin UniversityDepartment of Neurology and Neuroscience Center, the First Affiliated Hospital of Jilin UniversityDepartment of Neurology and Neuroscience Center, the First Affiliated Hospital of Jilin UniversityAbstract Background Autosomal recessive Myotonia congenita (Becker’s disease) is caused by mutations in the CLCN1 gene. The condition is characterized by muscle stiffness during sustained muscle contraction and variable degree of muscle weakness that tends to improve with repeated contractions. Case presentation A 21-year-old man presented with transient muscle stiffness since the last 10 years. He had difficulty in initiating movement and experienced muscle weakness after rest, which typically improved after repeated contraction (warm-up phenomenon). There was no significant family history. Medical examination showed generalized muscle hypertrophy. Serum creatine kinase level was 2-fold higher than the normal value. Electromyogram showed myotonic discharges. DNA sequence analysis identified a novel splice mutation (c.1401 + 1G > A) and a known mutation (c.1657A > T,p.Ile553Phe). He rapidly responded to treatment with mexiletine 100 mg three times a day for 6 months. Conclusions This case report of autosomal recessive Myotonia congenita caused by a novel compound heterozygous mutation expands the genotypic spectrum of CLCN1 gene.http://link.springer.com/article/10.1186/s12883-018-1153-xMyotonia congenitaAutosomal recessiveCase reportCLCN1 gene |
| spellingShingle | Jing Miao Xiao-jing Wei Xue-mei Liu Zhi-xia Kang Yan-lu Gao Xue-fan Yu A case report: autosomal recessive Myotonia congenita caused by a novel splice mutation (c.1401 + 1G > A) in CLCN1 gene of a Chinese Han patient BMC Neurology Myotonia congenita Autosomal recessive Case report CLCN1 gene |
| title | A case report: autosomal recessive Myotonia congenita caused by a novel splice mutation (c.1401 + 1G > A) in CLCN1 gene of a Chinese Han patient |
| title_full | A case report: autosomal recessive Myotonia congenita caused by a novel splice mutation (c.1401 + 1G > A) in CLCN1 gene of a Chinese Han patient |
| title_fullStr | A case report: autosomal recessive Myotonia congenita caused by a novel splice mutation (c.1401 + 1G > A) in CLCN1 gene of a Chinese Han patient |
| title_full_unstemmed | A case report: autosomal recessive Myotonia congenita caused by a novel splice mutation (c.1401 + 1G > A) in CLCN1 gene of a Chinese Han patient |
| title_short | A case report: autosomal recessive Myotonia congenita caused by a novel splice mutation (c.1401 + 1G > A) in CLCN1 gene of a Chinese Han patient |
| title_sort | case report autosomal recessive myotonia congenita caused by a novel splice mutation c 1401 1g a in clcn1 gene of a chinese han patient |
| topic | Myotonia congenita Autosomal recessive Case report CLCN1 gene |
| url | http://link.springer.com/article/10.1186/s12883-018-1153-x |
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