Key result
Genetic analysis of 19 South-Italian patients with Myotonia Congenita identified 18 CLCN1 mutations, including three novel mutations (p.Gly276Ser, p.Phe486Ser, and p.Gln812*) associated with the Becker phenotype.
Population
19 patients with myotonia congenita from southern Italy
Design
Observational case series
Authors
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Adds novel CLCN1 variant to myotonia spectrum; leaves open pathogenicity and diagnostic utility.
Observational (n=19)
This study expands the genetic spectrum of myotonia congenita by identifying two novel CLCN1 mutations and confirming inter-individual and intra-familial phenotypic variability.
Orsini et al. (2020) conducted an observational in Myotonia Congenita (n=19). CLCN1 mutations was evaluated on Identification of CLCN1 mutations. Genetic analysis of 19 South-Italian patients with Myotonia Congenita identified 18 CLCN1 mutations, including three novel mutations (p.Gly276Ser, p.Phe486Ser, and p.Gln812*) associated with the Becker phenotype.
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