P.245Morphological, ultrastructural and western blot analysis in adult and child with PLEC1-related myopathy

We report the morphological, ultrastructural and western blot analysis of 7 patients from six families carrying pathological variants in PLEC1: 3 with LGMD, 1 with LGMD+EB, 1 with EB+CMD and 2 with diffuse weakness. Skeletal muscle biopsies were performed in the seven patients; six adult patients (20 to 59 years of age; 3M/3F) and one female child (1 year old).
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research

Related Links:

Plectin is a giant multifunctional cytolinker protein (500 kDa) expressed in several tissues with essential roles in striated and smooth muscles, epithelia and nerve. It is a component of hemidesmosomes, desmosomes and focal adhesion contacts where it interacts with actin and intermediate filaments. Pathogenic variants in the PLEC1 gene lead to a group of diseases including epidermolysis bullosa (simplex ogna with or without muscular dystrophy, myasthenic syndrome, or pyloric atresia) and isolated limb-girdle muscular dystrophy.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
Authors: Reimer A, Has C Abstract Syndromic disorders with skin fragility belong to different groups of genodermatoses: epidermolysis bullosa (EB), Ehlers-Danlos syndrome and porphyria. The genetic defects mainly concern structural proteins which assure the mechanical stability of the skin and other tissues. Depending on the expression pattern of the affected protein in the skin, cutaneous fragility may manifest as superficial erosions, blisters, wounds, wound healing defects or scars. Extracutaneous manifestations are manifold and involve the heart, skeletal muscles, intestine, kidneys, blood vessels or the skelet...
Source: Der Hautarzt: Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete - Category: Dermatology Tags: Hautarzt Source Type: research
We report the case of a girl with epidermolysis bullosa simplex (EBS) associated with muscular dystrophy secondary to congenital plectin deficiency. She presented severe respiratory tract lesions extending from the oral cavity to the larynx. In particular, we describe our medical and surgical management of the laryngeal lesions, responsible for several episodes of respiratory distress and feeding difficulties.DiscussionEpidermolysis bullosa simplex associated with muscular dystrophy is a rare hereditary form of EB, as fewer than 50 cases have been reported in the literature. This form is characterized by mucosal lesions in...
Source: European Annals of Otorhinolaryngology, Head and Neck Diseases - Category: ENT & OMF Source Type: research
Clinical and Experimental Dermatology, EarlyView.
Source: Clinical And Experimental Dermatology - Category: Dermatology Authors: Source Type: research
" In most cases, the molecular consequences of disease, or trait-associated variants for human physiology, are not understood. " from: Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, et al. Finding the missing heritability of complex diseases. Nature 2009;461:747 –53. The 1960s was a wonderful decade for the field of molecular genetics. Hundreds of inherited metabolic diseases were being studied. Most of these diseases could be characterized by a simple inherited mutation in a disease-causing gene. Back then, we thought we understood genetic diseases. Here ’s how it all might hav...
Source: Specified Life - Category: Information Technology Tags: genetic heterogeneity genetics multi-step pathogenesis precision medicine Source Type: blogs
In January, 2018, Academic Press published my bookPrecision Medicine and the Reinvention of Human Disease. This book has an excellent " look inside " at itsGoogle book site, which includes the Table of Contents. In addition, I thought it might be helpful to see the topics listed in the Book's index. Note that page numbers followed by f indicate figures, t indicate tables, and ge indicate glossary terms.AAbandonware, 270, 310geAb initio, 34, 48ge, 108geABL (abelson leukemia) gene, 28, 58ge, 95 –97Absidia corymbifera, 218Acanthameoba, 213Acanthosis nigricans, 144geAchondroplasia, 74, 143ge, 354geAcne, 54ge, 1...
Source: Specified Life - Category: Information Technology Tags: index jules berman jules j berman precision medicine Source Type: blogs
Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD; OMIM #226670) is an autosomal recessive disease, characterized mainly by skin blistering at birth or shortly thereafter, progressive muscle weakne...
Source: BMC Dermatology - Category: Dermatology Authors: Tags: Case report Source Type: research
Plectin, a giant multifunctional cytolinker protein, plays a crucial role in orchestrating intermediate filament networks in a wide variety of tissues, as epithelia, skeletal muscle and heart. Mutations of the plectin gene (PLEC) on chromosome 8q24 cause autosomal recessive epidermolysis bullosa simplex with muscular dystrophy (EBS-MD), EBS-MD with myasthenic features, EBS with pyloric atresia, EBS-Ogna, and LGMD2Q. Here we report an Italian family with a distinctive muscle phenotype and autosomal recessive transmission in which Whole Exome Sequencing identified homozygous mutations in PLEC gene.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
Epidermolysis bullosa simplex with muscular dystrophy (EBSMD) is a rare clinical entity characterized by childhood onset of progressive muscular dystrophy and blistering skin changes. It is caused by homozygous or compound heterozygous mutations in the plectin gene (PLEC). Genetic defects have been reported in a limited number of patients. The precise phenotype-genotype correlations have yet to be defined. Here we describe two affected sisters with detailed clinical presentation, exam findings including timed motor function tests, MRI images and results, and confirmed novel PLEC compound heterozygous mutations.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
We report on a Turkish patient with congenital myopathy with a fiber type disproportion and central myonuclei comparable to a centronuclear myopathy and skin blistering (epidermolysis bullosa simplex, EBS) due to a novel homozygous mutation in the plectin gene, a cytoskeleton-membrane anchorage protein. So far, EBS has only been described to be associated with congenital or limb girdle muscular dystrophy, myasthenic syndrome, or pyloric atresia. A clubfoot and hypotonia were noted directly at birth, skin blistering was identified shortly after cast treatment of the foot malposition.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
More News: Brain | Children | Epidermolysis Bullosa | Genetics | Muscular Dystrophy | Neurology | Reflex Sympathetic Dystrophy