Display Settings:

Format

Send to:

Choose Destination
See comment in PubMed Commons below
Ann Indian Acad Neurol. 2011 Oct;14(4):307-9. doi: 10.4103/0972-2327.91963.

Moroccan consanguineous family with Becker myotonia and review.

Author information

  • 1Human Genomic Center, Faculty of medicine and pharmacy, University Mohammed V Souissi, Rabat, Morocco.

Abstract

Myotonia congenita is a genetic muscle disorder characterized by clinical and electrical myotonia, muscle hypertrophy, and stiffness. It is inherited as either autosomal-dominant or -recessive, known as Thomsen and Becker diseases, respectively. These diseases are distinguished by the severity of their symptoms and their patterns of inheritance. Becker disease usually appears later in childhood than Thomsen disease and causes more severe muscle stiffness and pain. Mutations in the muscular voltage-dependent chloride channel gene (CLCN1), located at 7q35, have been found in both types. We report here the case of a Moroccan consanguineous family with a myotonic autosomal-recessive condition in two children. The molecular studies showed that the patients reported here are homozygous for mutation p.Gly482Arg in the CLCN1 gene. The parents were heterozygote carriers for mutation p.Gly482Arg. This diagnosis allowed us to provide an appropriate management to the patients and to make a genetic counselling to their family.

KEYWORDS:

Autosomal recessive; CLCN1gene; myotonia congenital

PMID:
22346025
[PubMed]
PMCID:
PMC3271475
Free PMC Article

Images from this publication.See all images (1)Free text

Figure 1
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Medknow Publications and Media Pvt Ltd Icon for PubMed Central
    Loading ...
    Write to the Help Desk