Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis

Highlights • We performed sequencing of 38 genes in 79 sporadic inclusion body myositis patients (sIBM). • Genetic variants associated with hereditary diseases may be found in sIBM patients but their significance is unclear. • Genetic studies in sIBM patients may be clinically helpful in distinguish...

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Veröffentlicht in:	Neuromuscular disorders : NMD 2015-04, Vol.25 (4), p.289-296
Hauptverfasser:	Weihl, Conrad C, Baloh, Robert H, Lee, Youjin, Chou, Tsui-Fen, Pittman, Sara K, Lopate, Glenn, Allred, Peggy, Jockel-Balsarotti, Jennifer, Pestronk, Alan, Harms, Matthew B
Format:	Artikel
Sprache:	eng
Schlagworte:	Adenosine Triphosphatases - genetics Aged Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis - genetics C9orf72 Protein Cell Cycle Proteins - genetics Cell Line, Tumor Dementia - genetics Distal Myopathies - genetics Female Genetic Predisposition to Disease Genetic Variation Hereditary inclusion body myopathy Humans Inclusion body myositis Male Muscular Dystrophy, Emery-Dreifuss - genetics Myofibrillar myopathy Myopathies, Structural, Congenital - genetics Myositis, Inclusion Body - genetics Neurology Proteins - genetics Sequence Analysis, DNA Valosin Containing Protein VCP
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Zusammenfassung:	Highlights • We performed sequencing of 38 genes in 79 sporadic inclusion body myositis patients (sIBM). • Genetic variants associated with hereditary diseases may be found in sIBM patients but their significance is unclear. • Genetic studies in sIBM patients may be clinically helpful in distinguishing hereditary diseases.
ISSN:	0960-8966 1873-2364
DOI:	10.1016/j.nmd.2014.12.009