Ontology highlight
ABSTRACT:
SUBMITTER: Moreau-Le Lan S
PROVIDER: S-EPMC6281284 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Moreau-Le Lan Sarah S Aller Elena E Calabria Ines I Gonzalez-Tarancon Lola L Cardona-Gay Cristina C Martinez-Matilla Marina M Aparisi Maria J MJ Selles Jorge J Sagath Lydia L Pitarch Inmaculada I Muelas Nuria N Cervera Jose V JV Millan Jose M JM Pedrola Laia L
PloS one 20181205 12
Nemaline Myopathy (NM) is a rare genetic disorder that encompasses a large spectrum of myopathies characterized by hypotonia and generalized muscle weakness. To date, mutations in thirteen different genes have been associated with NM. The most frequently responsible genes are NEB (50% of cases) and ACTA1 (15-25% of cases). In this report all known NM related genes were screened by Next Generation Sequencing in five Spanish patients in order to genetically confirm the clinical and histological di ...[more]