Becker congenital myotonia in black African with molecular findings
نویسندگان
چکیده
Abstract Background Congenital myotonia is a congenital disorder that affects skeletal muscles with myotonia. Affected show stiffness and pain sometimes. The two major types of congenita are known as Thomsen disease Becker disease. These conditions distinguished by the severity their symptoms patterns inheritance. causative factor mutations in CLCN1 gene. Myotonia rarely reported black especially African. Case presentation This case report 36-year-old male from Benin. arose at age 7 years regular progressive course pains. Electromyogram, blood sampling, laboratory investigations biopsy confirm diagnostic molecular finding. Conclusion authors African confirmation. Mexiletine was used symptomatic agent good results.
منابع مشابه
A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia
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congenital recessive myotonia is a rare genetic disorder caused by mutations in clcn1, which codes for the main skeletal muscle chloride channel clc-1. more than 120 mutations have been found in this gene. the main feature of this disorder is muscle membrane hyperexcitability. here, we report a 59-year male patient suffering from congenital myotonia. he had transient generalized myotonia, which...
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ژورنال
عنوان ژورنال: Egyptian Journal of Medical Human Genetics
سال: 2022
ISSN: ['2090-2441', '1110-8630']
DOI: https://doi.org/10.1186/s43042-022-00290-0