Key result
Possessing two copies of the dominantly inherited T310M mutation on the CLCN1 gene resulted in a novel, severe phenotype with diffuse muscular hypertrophy and weakness compared to heterozygous carriers.
Population
A kindred featuring an index patient with 2 copies of a dominantly inherited mutated CLCN1 allele and his…
Design
Case_report
Authors
Loading...
Alerts clinicians to possible severe myotonia in T310M homozygotes; extends CLCN1 allelic series but remains hypothesis-generating.
Case Report (n=6)
This case provides the initial demonstration of a dosage effect of a dominant mutated allele (T310M) in the CLCN1 gene, resulting in a novel, more severe phenotypic presentation when two copies are present.
Bernard et al. (2007) conducted a case report in Myotonia congenita (n=6). 2 copies of the T310M mutation on the CLCN1 gene vs. Single copy of the T310M mutation was evaluated on Phenotypic presentation (muscular hypertrophy, weakness, myotonia). Possessing two copies of the dominantly inherited T310M mutation on the CLCN1 gene resulted in a novel, severe phenotype with diffuse muscular hypertrophy and weakness compared to heterozygous carriers.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: