Abstract
Limb girdle muscular dystrophies (LGMD) are a heterogeneous group of inherited progressive muscle disorders affecting predominantly the shoulder and pelvic girdle muscles. They present both with autosomal dominant and autosomal recessive patterns of inheritance. Recent development, including results from Next Generation Sequencing technology, expanded the number of recognised forms. Therefore a revised genetic classification that takes into account the novel entities is needed, allowing clinicians and researchers to refer to a common nomenclature for diagnostic and research purposes.
Keywords: Classification, DNAJB6, genetics, isoprenoid synthase domain-containing (ISPD) gene, limb girdle muscular dystrophy, LGMD2R, transportin 3.
Current Molecular Medicine
Title:Revised Genetic Classification of Limb Girdle Muscular Dystrophies
Volume: 14 Issue: 8
Author(s): F. Magri, S. Brajkovic, A. Govoni, R. Brusa and G.P. Comi
Affiliation:
Keywords: Classification, DNAJB6, genetics, isoprenoid synthase domain-containing (ISPD) gene, limb girdle muscular dystrophy, LGMD2R, transportin 3.
Abstract: Limb girdle muscular dystrophies (LGMD) are a heterogeneous group of inherited progressive muscle disorders affecting predominantly the shoulder and pelvic girdle muscles. They present both with autosomal dominant and autosomal recessive patterns of inheritance. Recent development, including results from Next Generation Sequencing technology, expanded the number of recognised forms. Therefore a revised genetic classification that takes into account the novel entities is needed, allowing clinicians and researchers to refer to a common nomenclature for diagnostic and research purposes.
Export Options
About this article
Cite this article as:
Magri F., Brajkovic S., Govoni A., Brusa R. and Comi G.P., Revised Genetic Classification of Limb Girdle Muscular Dystrophies, Current Molecular Medicine 2014; 14 (8) . https://dx.doi.org/10.2174/1566524014666141010130244
DOI https://dx.doi.org/10.2174/1566524014666141010130244 |
Print ISSN 1566-5240 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5666 |
- Author Guidelines
- Graphical Abstracts
- Fabricating and Stating False Information
- Research Misconduct
- Post Publication Discussions and Corrections
- Publishing Ethics and Rectitude
- Increase Visibility of Your Article
- Archiving Policies
- Peer Review Workflow
- Order Your Article Before Print
- Promote Your Article
- Manuscript Transfer Facility
- Editorial Policies
- Allegations from Whistleblowers
Related Articles
-
New Genetic Polymorphisms as an Epidemiological Factor of Arterial
Hypertension in Patients with Hyposodical Diet
Current Hypertension Reviews Dysregulation of Neurotrophic and Haematopoietic Growth Factors in Alzheimer’s Disease: From Pathophysiology to Novel Treatment Strategies
Current Alzheimer Research Incorporation of Selenocysteine into Proteins Using Peptide Ligation
Protein & Peptide Letters New and Under Explored Epigenetic Modulators in Search of New Paradigms
Medicinal Chemistry Recent advances in the management of autoimmune myocarditis: insights from animal studies.
Current Pharmaceutical Design Neuregulin1 as Novel Therapy for Heart Failure
Current Pharmaceutical Design Protein Synthesis and Assembly in Mitochondrial Disorders
Current Topics in Medicinal Chemistry Stable Gastric Pentadecapeptide BPC 157-NO-system Relation
Current Pharmaceutical Design Cell Therapy for Myocardial Regeneration
Current Molecular Medicine Characterization of Supraventricular Tachycardia in Infants: Clinical and Instrumental Diagnosis
Current Pharmaceutical Design Past, Present and Future Therapeutics for Cerebellar Ataxias
Current Neuropharmacology Mesenchymal Stem Cells as a Source of Dopaminergic Neurons: A Potential Cell Based Therapy for Parkinson's Disease
Current Stem Cell Research & Therapy Therapeutic Angiogenesis in Ischemic Tissues by Growth Factors and Bone Marrow Mononuclear Cells Administration: Biological Foundation and Clinical Prospects
Current Stem Cell Research & Therapy New Cell Therapy Using Bone Marrow-Derived Stem Cells/Endothelial Progenitor Cells to Accelerate Neovascularization in Healing of Experimental Ulcerative Colitis
Current Pharmaceutical Design How to Target Activated Ras Proteins: Direct Inhibition vs. Induced Mislocalization
Mini-Reviews in Medicinal Chemistry Meet Our Editorial Board Member
Current Cardiology Reviews Role of Nitric Oxide and Mitochondrial Nitric Oxide Synthase in Energy Adaptive Responses
Current Cardiology Reviews Hypertensive Cardiomyopathy in Asymptomatic Patients: A Neglected Diagnosis
Current Hypertension Reviews Risk Profiles in Type 2 Diabetes (Metabolic Syndrome): Integration of IL-10 Polymorphisms and Laboratory Parameters to Identify Vascular Damages Related Complications
Current Pharmaceutical Design What Does a Pediatrician Need to Know About Chronic Diarrhea?
Current Pediatric Reviews