One fetus also showed widened extracerebral space which has been reported in very few cases [13], but whether it is caused by TTN mutation is unclear. Although the widespread use of NGS has enabled the discovery of an increasing number of variants in TTN, characterization of a complete ...
Tibial muscular dystrophy (TMD) is caused by muta- tions in the TTN and manifests itself in the adult patient as weakening of the tibialis anterior muscle [27]. In Finn- ish TMD patients, FINmaj mutation (an 11-bp deletion) was found in the last exon of TTN [29]...
MutationTaster is a web-based application designed to assess the disease-causing potential of DNA sequence variants. It employs in silico tests to estimate the impact of a variant on the gene product or protein, conducting assessments at both the protein and DNA levels. Unlike tools limited to ...
Clinical and pathological heterogeneity in a family with ACTA1 mutation and TTN variantsMutations in skeletal muscle 伪-actin 1-encoding gene (ACTA1) cause autosomal dominant or recessive myopathies with marked clinical and pathological heterogeneity. Patients typically develop generalized or limb-girdle...
Using our custom Comparative Genomic Hybridisation array, we have previously shown that a gain or loss of more than one copy of the repeated block of the nebulin triplicate region constitutes a recessive pathogenic mutation. Using targeted array-CGH, similar copy number variants can be detected in...