Genotype–phenotype correlation of F484L mutation in three Italian families with Thomsen myotonia

Background Becker’s type myotonia congenita is an autosomal recessive nondystrophic skeletal muscle disorder characterized by muscle stiffness and the inability of muscle relaxation after voluntary contraction. It is caused by mutations in the CLCN1 gene, which encodes for a chloride channel mainly expressed in the striated muscle. Most cases have been reported in the European population, and only mexiletine has demonstrated a randomized placebo-controlled, double-blinded effectiveness. Case Presentation We present two male siblings from Colombia with Latino ancestry, without parental consanguinity, with myotonia during voluntary movements, muscle hypertrophy of lower extremities, transient weakness, and severe muscle fatigue after exercise from three years of age. A genetic panel for dystrophic muscle disorders and a muscle biopsy were both negative. Genetic testing was performed in their second decade of life. Both patients’ exomic sequencing test reported the mutation c.1129C >T (p.Arg377*) affecting exon 10 of the CLCN1 , generating a premature stop codon. This mutation was described as pathogenic and observed in only one other patient in the United Kingdom. Conclusion To our knowledge, these are the first cases of Becker’s type myotonia congenita reported in Colombia. Increasing awareness of healthcare providers for this type of disease in the region could lead to the identification of undiagnosed patients. Limited availability of medical geneticists as well as genetic testing may be the cause of the lack of previous description of cases, in addition to the delay in the diagnosis of the patients. Further epidemiological studies can reveal underdiagnosed myotonias in the country and in the Latin-American region.

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First Two Case Reports of Becker’s Type Myotonia Congenita in Colombia: Clinical and Genetic Features

Olave-Rodriguez¹,

Bonilla‐Escobar²,

Candelo³

et al. 2021

TACG

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Genotype–phenotype correlation of F484L mutation in three Italian families with Thomsen myotonia

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References 14 publications

First Two Case Reports of Becker’s Type Myotonia Congenita in Colombia: Clinical and Genetic Features

First Two Case Reports of Becker’s Type Myotonia Congenita in Colombia: Clinical and Genetic Features

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