Myology research highlights

The development of therapeutics for neurological disorders is constrained by limited access to the central nervous system (CNS). ATP-binding cassette (ABC) transporters, particularly P-glycoprotein (P-gp) and breast cancer resistance protein (BCRP), are expressed on the luminal surface of capillaries in the CNS and transport drugs out of the endothelium back into the blood against the … [Read more]

This study retrospectively merged databases from different large multicentric networks in the United States and Europe in order to establish (i) 12-month HFMSE changes in a larger cohort than those previously reported; (ii) possible differences of progression between ambulant and non-ambulant patients; (iii) the possible effect of different variables, such as gender, baseline values or … [Read more]

  Herein, the authors a report novel disease and pathology due to HSPB8 mutations in 2 families with autosomal dominant distal neuromuscular disease showing both myofibrillar and rimmed vacuolar myopathy together with neurogenic changes. Whole-exome sequencing (WES) was performed in tandem with linkage analysis and candidate gene approach as well as targeted next-generation sequencing (tNGS) … [Read more]

  Congenital myopathies are a group of inherited muscle disorders characterized by hypotonia, weakness and a non-dystrophic muscle biopsy with the presence of one or more characteristic histological features. Neuromuscular transmission defects have recently been reported in several patients with congenital myopathies (CM). Mutations in KLHL40 are among the most common causes of severe forms … [Read more]

  Dysphagia is a common symptom in myotonic dystrophy (DM1), that may be difficult to diagnose and treat and can be associated with increased morbidity and mortality. Preexisting cognitive impairment or apathy, both well described in the DM1 literature, may contribute to management challenges. Caregivers may become important for managing a family member’s swallowing dysfunction. … [Read more]

  Congenital myopathies are a clinically and genetically heterogeneous group of muscle disorders characterized by congenital or early-onset hypotonia and muscle weakness, and specific pathological features on muscle biopsy. The phenotype ranges from foetal akinesia resulting in in utero or neonatal mortality, to milder disorders that are not life-limiting. Over the past decade, more than … [Read more]

  In this study, the authors report on five Sardinian patients presenting in their 5th or 6th decade with progressive limb girdle muscle weakness but with muscle biopsies demonstrating vacuolar myopathy. The more or less abundant subsarcolemmal and intermyofibrillar vacuoles showed intense, partially α-amylase resistant, PAS-positive deposits consistent with polyglucosan. The recent description of late-onset … [Read more]

  Fibrodysplasia ossificans progressiva (FOP) is a rare disease characterized by progressive ossification of soft tissues, for which there is no effective treatment. Mutations in the bone morphogenetic protein (BMP) type I receptor activin receptor-like kinase 2 (ACVR1/ALK2) are the main cause of FOP. Here, the authors generated human induced pluripotent stem cells (hiPSCs) from … [Read more]

  The Popeye domain-containing 1 (POPDC1) gene encodes a plasma membrane-localized cAMP-binding protein that is abundantly expressed in striated muscle. In animal models, POPDC1 is an essential regulator of structure and function of cardiac and skeletal muscle; however, POPDC1 mutations have not been associated with human cardiac and muscular diseases. Here, the authors have described … [Read more]

  Genome-wide linkage analysis and whole exome sequencing were used in this study to identify the genetic mutation in a multigenerational Australian family with Charcot-Marie-Tooth type 2 (CMT2) and pyramidal signs. Significant linkage (2 point LOD score ≥ +3) and haplotype analysis mapped a new locus for CMT2 and pyramidal signs to a 6.6-Mb interval on chromosome … [Read more]