Different Phenotypes in Dysferlinopathy

Different phenotypes in dysferlinopathy.

Key words: dysferlin, limb-girdle muscular dystrophy, Miyoshi myopathy Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of disorders and consists of 9 autosomal recessive types (1-9), and 5 autosomal dominant types (10, 1 1). Recently two different clinical forms of muscular dystro-phy, LGMD2B and Miyoshi myopathy have been shown to have a dysferlin defect (12-14), which is a prot...

Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects

BACKGROUND Dysferlin is reduced in patients with limb girdle muscular dystrophy type 2B, Miyoshi myopathy, distal anterior compartment myopathy, and in certain Ethnic clusters. METHODS We evaluated clinical and genetic patient data from three different Swiss Neuromuscular Centers. RESULTS Thirteen patients from 6 non-related families were included. Age of onset was 18.8 ± 4.3 years. In all ...

Metabolic syndrome and different obesity phenotypes in the elderly women population: Iran’s Health System on aging

Background: Current literature has been focused on types of obesity with normal BMI (body mass index), but metabolically unhealthy.This study evaluates the prevalence of metabolical phenotypes of obesity. We also identified the best obesity index in predicting the components of metabolic syndrome (MetS). Methods: A cross-sectional study has been conducted on 164 women over 60 years. Anthropome...

Different NK Cell Surface Phenotypes

Pulmonary hypertension in systemic sclerosis: different phenotypes.

Pulmonary hypertension (PH) is a frequent and severe complication of systemic sclerosis (SSc). PH in SSc is highly heterogeneous because of the various clinical phenotypes of SSc itself and because the mechanisms of PH can vary from one patient to another. PH in SSc may be due to vasculopathy of the small pulmonary arteries (group 1; pulmonary arterial hypertension), interstitial lung disease (...