Background The late-onset cerebellar ataxias (LOCAs) have largely resisted molecular
diagnosis. Methods We sequenced the genomes of six persons with autosomal dominant LOCA …

Background Complement is likely to have a role in refractory generalised myasthenia gravis,
but no approved therapies specifically target this system. Results from a phase 2 study …

We previously linked Laing-type early-onset autosomal dominant distal myopathy (MPD1)
to a 22-cM region of chromosome 14. One candidate gene in the region, MYH7, which is …

Ataxia, causing imbalance, dizziness and falls, is a leading cause of neurological disability.
We have recently identified a biallelic intronic AAGGG repeat expansion in replication factor …

We identified a member of the BTB/Kelch protein family that is mutated in nemaline myopathy
type 6 (NEM6), an autosomal-dominant neuromuscular disorder characterized by the …

Defects of the mitochondrial respiratory chain are associated with a diverse spectrum of
clinical phenotypes, and may be caused by mutations in either the nuclear or the mitochondrial …

Short tandem repeat (STR) expansions have been identified as the causal DNA mutation in
dozens of Mendelian diseases. Most existing tools for detecting STR variation with short …

Objective Comprehensive clinical characterization of congenital titinopathy to facilitate
diagnosis and management of this important emerging disorder. Methods Using massively …

Laing early onset distal myopathy and myosin storage myopathy are caused by mutations of
slow skeletal/β‐cardiac myosin heavy chain encoded by the gene MYH 7, as is a common …

A novel heteroplasmic 7587T→C mutation in the mitochondrial genome which changes the
initiation codon of the gene encoding cytochrome c oxidase subunit II (COX II), was found in …