Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions.

Myoglobin, encoded by MB, is a small cytoplasmic globular hemoprotein highly expressed in cardiac myocytes and oxidative skeletal myofibers. Myoglobin binds O facilitates its intracellular transport and serves as a controller of nitric oxide and reactive oxygen species. Here, we identify a recurrent c.

Improving Pressure Ulcer Reconstruction: Our Protocol and the COP (Cone of Pressure) Flap.

Background: Surgical treatment of pressure ulcers is challenging for high recurrence rates. Deepithelialized flaps have been used previously with the aim to eliminate shearing forces and the cone of pressure (COP) effect. The goal of this study is to adopt a standardized protocol and evaluate if 2 different flap techniques affect outcomes.

Hereditary myopathy with early respiratory failure: occurrence in various populations.

Objective: Several families with characteristic features of hereditary myopathy with early respiratory failure (HMERF) have remained without genetic cause. This international study was initiated to clarify epidemiology and the genetic underlying cause in these families, and to characterise the phenotype in our large cohort.

Methods: DNA samples of all currently known families with HMERF without molecular genetic cause were obtained from 12 families in seven different countries.

Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1.

Objective: A study was undertaken to identify the molecular cause of Welander distal myopathy (WDM), a classic autosomal dominant distal myopathy.

Methods: The genetic linkage was confirmed and defined by microsatellite and single nucleotide polymorphism haplotyping. The whole linked genomic region was sequenced with targeted high-throughput and Sanger sequencing, and coding transcripts were sequenced on the cDNA level.