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
| Autor: | Xue-mei Liu, Zhi-xia Kang, Yan-lu Gao, Xiao-jing Wei, Xue-fan Yu, Jing Miao |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
musculoskeletal diseases Male medicine.medical_specialty Genotype Myotonia Congenita Autosomal recessive Compound heterozygosity lcsh:RC346-429 03 medical and health sciences Young Adult 0302 clinical medicine Asian People Chloride Channels Internal medicine Mexiletine Case report Medicine Humans lcsh:Neurology. Diseases of the nervous system CLCN1 biology business.industry Myotonia congenita Muscle weakness General Medicine Muscle stiffness CLCN1 gene medicine.disease 030104 developmental biology Endocrinology Mutation (genetic algorithm) Mutation biology.protein Neurology (clinical) medicine.symptom business 030217 neurology & neurosurgery Muscle contraction medicine.drug |
| Zdroj: | BMC Neurology, Vol 18, Iss 1, Pp 1-3 (2018) |
| ISSN: | 1471-2377 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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