Higher Prevalence of Nonsense Pathogenic Variants in a Single-Center Cohort from Brazil: A Genetic Profile Study That May Guide the Choice of Disease-Modifying Treatments.

Dystrophinopathies are muscle diseases caused by pathogenic variants in the largest gene described in humans, representing a spectrum of diseases ranging from asymptomatic creatine phosphokinase elevation to severe Duchenne muscular dystrophy (). Several therapeutic strategies are currently in use or under development, each targeting different pathogenic variants. However, little is known about the genetic profiles of northeast Brazilian patients with dystrophinopathies.

Bailey-Bloch Congenital Myopathy in Brazilian Patients: A Very Rare Myopathy with Malignant Hyperthermia Susceptibility.

Background: Congenital myopathy-13 (CMYP13), also known as Bailey-Bloch congenital myopathy and Native American myopathy (NAM), is a condition caused by biallelic missense pathogenic variants in , which encodes an important protein necessary for the excitation-relaxation coupling machinery in the muscle. Patients with biallelic pathogenic variants in often present with congenital weakness and arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kyphoscoliosis, and susceptibility to malignant hyperthermia provoked by anesthesia. We present two unrelated cases of Bailey-Bloch congenital myopathy descendants of non-consanguineous parents, which were investigated for delayed psychomotor development and generalized weakness.

The speed of internationalization in regionally clustered family firms: a deeper understanding of innovation activities and cluster affiliation.

Unlabelled: This article aims to explore how innovation activities and cluster affiliation moderate the relationship between family involvement and post-internationalization speed in family firms. Based on a sample of 639 Portuguese family businesses (FBs) created and internationalized between 2010 and 2018, we show that, all things being equal, higher levels of family involvement in ownership and management lead to a lower post-internationalization speed. When considering the effect of cluster affiliation, we found that clustered FBs have a lower propensity to slow down the post-internationalization process than their non-clustered counterparts.

Data from the numerical analysis of radial and tangential leakage of gas in scroll compressors.

The data presented herein are related to the simulations and correlations reported in the article entitled "Numerical analysis and correlations for radial and tangential leakage of gas in scroll compressors" [1]. The numerical simulations were carried out using the ANSYS FLUENT 12.1.