Targeted next-generation sequencing assay for detection of mutations in primary myopathies
A Evilä, M Arumilli, B Udd, P Hackman - Neuromuscular Disorders, 2016 - Elsevier
Mutations in more than 100 different genes are known to cause hereditary primary
myopathies. In patients with less distinct phenotypes several genes may have to be
sequenced in order to make the correct diagnosis. The large number of possible candidate
genes and overlapping phenotypes, as well as an enormous size of some of the genes such
as DMD, TTN and NEB, constitute difficult challenges for molecular genetic diagnostics
using conventional sequencing. Molecular characterization is nevertheless important for the …
myopathies. In patients with less distinct phenotypes several genes may have to be
sequenced in order to make the correct diagnosis. The large number of possible candidate
genes and overlapping phenotypes, as well as an enormous size of some of the genes such
as DMD, TTN and NEB, constitute difficult challenges for molecular genetic diagnostics
using conventional sequencing. Molecular characterization is nevertheless important for the …
