The genetic basis of undiagnosed muscular dystrophies and myopathies

2016102 citationsJournal Articlebronze Open Access

Authors

Marco Savarese · General Motors (India)

Giuseppina Di Fruscio · General Motors (India)

Annalaura Torella · General Motors (India)

Chiara Fiorillo · General Motors (India)

Francesca Magri · General Motors (India)

Francesco Mari · General Motors (India)

Lucia Ruggiero ·

Abstract

Our large DNA study of patients with undiagnosed myopathy is an example of the ongoing revolution in molecular diagnostics, highlighting the advantages in using NGS as a first-tier approach for heterogeneous genetic conditions.

Topics & Keywords

Muscle Physiology and Disorders Cardiomyopathy and Myosin Studies Neurogenetic and Muscular Disorders Research

Publication Details

Published in: Neurology

Volume 87, Issue 1, pp. 71-76

DOI: 10.1212/wnl.0000000000002800

Field-Weighted Citation Impact: 7.14

Command Palette

The genetic basis of undiagnosed muscular dystrophies and myopathies

Authors

Abstract

Topics & Keywords

Publication Details