The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients.

ABSTRACT:

Objective

To apply next-generation sequencing (NGS) for the investigation of the genetic basis of undiagnosed muscular dystrophies and myopathies in a very large cohort of patients.

Methods

We applied an NGS-based platform named MotorPlex to our diagnostic workflow to test muscle disease genes with a high sensitivity and specificity for small DNA variants. We analyzed 504 undiagnosed patients mostly referred as being affected by limb-girdle muscular dystrophy or congenital myopathy.

Results

MotorPlex provided a complete molecular diagnosis in 218 cases (43.3%). A further 160 patients (31.7%) showed as yet unproven candidate variants. Pathogenic variants were found in 47 of 93 genes, and in more than 30% of cases, the phenotype was nonconventional, broadening the spect

SUBMITTER: Savarese M 

PROVIDER: S-EPMC4932234 | biostudies-literature | 2016 Jul

REPOSITORIES: biostudies-literature