Ontology highlight
ABSTRACT:
SUBMITTER: Palmio J
PROVIDER: S-EPMC6394805 | biostudies-literature | 2019 Mar
REPOSITORIES: biostudies-literature
Palmio Johanna J Leonard-Louis Sarah S Sacconi Sabrina S Savarese Marco M Penttilä Sini S Semmler Anna-Lena AL Kress Wolfram W Mozaffar Tahseen T Lai Tim T Stojkovic Tanya T Berardo Andres A Reisin Ricardo R Attarian Shahram S Urtizberea Andoni A Cobo Ana Maria AM Maggi Lorenzo L Kurbatov Sergei S Nikitin Sergei S Milisenda José C JC Fatehi Farzad F Raimondi Monika M Silveira Fernando F Hackman Peter P Claeys Kristl G KG Udd Bjarne B
Journal of neurology 20190121 3
<h4>Objective</h4>Hereditary myopathy with early respiratory failure (HMERF) is caused by titin A-band mutations in exon 344 and considered quite rare. Respiratory insufficiency is an early symptom. A collection of families and patients with muscle disease suggestive of HMERF was clinically and genetically studied.<h4>Methods</h4>Altogether 12 new families with 19 affected patients and diverse nationalities were studied. Most of the patients were investigated using targeted next-generation seque ...[more]