The COVID-19 pandemic, caused by the severe acute respiratory syndrome coronavirus 39
2 (SARS-CoV-2) virus, has made a staggering global impact and became one of the most 40 …

Immune checkpoint inhibitors have revolutionized the landscape of cancer treatment.
Alongside their many advantages, they elicit immune-related adverse events, including …

Life-threatening neuromuscular disorders affect a small, but growing group of patients in the
intensive care unit who present special management problems, as well as great therapeutic …

DNAJ/HSP40 co-chaperones are integral to the chaperone network, bind client proteins and
recruit them to HSP70 for folding. We performed exome sequencing on patients with a …

Objective 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 …

Objective The aim of this study is to identify the molecular defect of three unrelated
individuals with late-onset predominant distal myopathy; to describe the spectrum of …

The aim of the study was to identify possible predictors of neurological worsening and need
of non-invasive ventilation (NIV) in individuals affected by myotonic dystrophy type 1 (DM1) …

Las distrofias musculares son un grupo de trastornos hereditarios, degenerativos,
progresivos del músculo estriado, cuya manifestación cardinal es la debilidad de la …

Isolated mitochondrial myopathy refers to the condition of mitochondrial disorders that
primarily affect the skeletal muscle system. Here we report on a case of a patient who …

Recessive mutations in MEGF10 (multiple epidermal growth factor 10) have been reported
in a severe early onset disorder named Early Myopathy, Areflexia, Respiratory Distress and …