1.
Muscle Nerve
; 45(2): 279-83, 2012 Feb.
Article
in English
| MEDLINE
| ID: mdl-22246887
ABSTRACT
We describe a large Brazilian consanguineous kindred with 3 clinically affected patients with a Thomsen myotonia phenotype. They carry a novel homozygous nonsense mutation in the CLCN1 gene (K248X). None of the 6 heterozygote carriers show any sign of myotonia on clinical evaluation or electromyography. These findings confirm the autosomal recessive inheritance of the novel mutation in this family, as well as the occurrence of phenotypic variability in the autosomal recessive forms of myotonia.
Subject(s)
Chloride Channels/genetics , Codon, Nonsense/genetics , Myotonia Congenita/genetics , Myotonia/genetics , Adenosine Triphosphatases/metabolism , Adolescent , Brazil , Child , Consanguinity , Echocardiography , Exons/genetics , Family Health , Female , Humans , Male , Muscle, Skeletal/pathology , Muscle, Skeletal/physiopathology , Myotonia/pathology , Myotonia/physiopathology , Myotonia Congenita/pathology , Myotonia Congenita/physiopathology , Neural Conduction/genetics , Phenotype
2.
Muscle Nerve
; 41(3): 427-8, 2010 Mar.
Article
in English
| MEDLINE
| ID: mdl-19918890