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.

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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