Search

To assess whether exon deletions or duplications in CLCN1are associated with recessive myotonia congenita (MC).

To study the clinical and genetic features in a large cohort of UK patients with sodium channel paramyotonia congenita.

To evaluate clinical, genetic, and electrophysiologic features of patients with Andersen-Tawil syndrome (ATS) in the United Kingdom.

The authors sequenced POLG1, C10ORF2, and ANT1in 38 sporadic progressive external ophthalmoplegia patients with multiple mitochondrial DNA (mtDNA) deletions. Causative mutations were identified in approximately10% of cases, with two unrelated individuals harboring a novel premature stop codon mutation (1356T>G). None had a mutation in C10ORF2or ANT1. In the majority of patients, the primary nuclear genetic defect is likely to affect other unknown genes important for mtDNA maintenance.