Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis
Sporadic inclusion body myositis (sIBM) has clinical, pathologic and pathomechanistic
overlap with some inherited muscle and neurodegenerative disorders. In this study, DNA
from 79 patients with sIBM was collected and the sequencing of 38 genes associated with
hereditary inclusion body myopathy (IBM), myofibrillar myopathy, Emery–Dreifuss muscular
dystrophy, distal myopathy, amyotrophic lateral sclerosis and dementia along with C9orf72
hexanucleotide repeat analysis was performed. No C9orf72 repeat expansions were …
overlap with some inherited muscle and neurodegenerative disorders. In this study, DNA
from 79 patients with sIBM was collected and the sequencing of 38 genes associated with
hereditary inclusion body myopathy (IBM), myofibrillar myopathy, Emery–Dreifuss muscular
dystrophy, distal myopathy, amyotrophic lateral sclerosis and dementia along with C9orf72
hexanucleotide repeat analysis was performed. No C9orf72 repeat expansions were …