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From clinical to molecular diagnosis: relevance of the MLPA in one case of recessive myotonia congenita – case report

2022-11-09

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<title>Abstract</title> <p><bold>Background</bold>: Myotonia congenita (MC) is traditionally classified as Thomsen (autosomal dominant) and Becker (autosomal recessive) diseases, caused by mutations in the <italic>CLCN1</italic>, encoding the skeletal muscle voltage-gated chloride channel (ClC-1). MC is clinically characterized by muscle stiffness at the beginning of exercise (i.e. myotonia), alleviated by repeti...

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Literature Corpus work
3fe2eb4a-c8da-5184-92c1-1505e0025acb
DOI
10.21203/rs.3.rs-2174813/v1
Open publication

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From clinical to molecular diagnosis: relevance of the MLPA in one case of recessive myotonia congenita – case reportDOI 10.21203/rs.3.rs-2174813/v1
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