Article
Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.
Clinical genetics - 1 Mar 2017
Fattahi Z, Kalhor Z, Fadaee M, Vazehan R, Parsimehr E, Abolhassani A, Beheshtian M, Zamani G, Nafissi S, Nilipour Y, Akbari M R, Kahrizi K, Kariminejad A, Najmabadi H
Abstract excerpt
Neuromuscular diseases (NMDs) include a broad range of disorders affecting muscles, nerves and neuromuscular junctions. Their overlapping phenotypes and heterogeneous genetic nature have created challenges in diagnosis which calls for the implementation of massive parallel sequencing as a candidate strategy to increase the diagnostic yield. In this study, total of 45 patients, mostly offspring of consanguineous...
Topics
- Consanguinity
- Exome
- Family
- Female
- Genetic Testing
- High-Throughput Nucleotide Sequencing
- Humans
- Male
- Neuromuscular Diseases
- Pedigree