Structural and molecular basis of skeletal muscle diseases

Structural and molecular basis of skeletal muscle diseases Download PDF EPUB FB2

The diseases are grouped into major categories that are characterised by a common molecular or functional feature rather than a traditional designation.

Covers all major myopathies and is focused on molecular genetics, pathophysiology, and structural changes. Shareable Link. Use the link below to share a full-text version of this article with your friends and colleagues. Learn : Michael J. Aminoff. The objective of this review is to provide a systems‐level, comprehensive mapping the molecular mechanisms underlying skeletal muscle structure and function, in health and disease.

We begin this review with a focus on molecular mechanisms underlying muscle tissue development (myogenesis), with an emphasis on satellite cells and muscle by: 6.

Skeletal muscle from XLMTM patients contains hypotrophic fibers with central nuclei surrounded by a halo devoid of myofibrils where mitochondria and glycogen accumulate (9,10).

Fiber size, but not. Chapter 3 - Biochemical and molecular basis of muscle disease from Section 1 - The scientific basis of muscle disease By Susan C. Brown, Cecilia Jimenez-MalleberaCited by: 4.

In both mouse and human skeletal muscle, dystrophin deficiency results in loss of neuronal nitric oxide synthase, which normally is localized to the sarcolemma as part of the dystrophin Author: Anneke Van Der Kooi. The Structure and Function of Muscle, Second Edition, Volume I, Structure Part 1 deals primarily with structure, considering muscles from the macroscopic, embryonic, histological, and molecular points of view.

This book discusses the anatomy of muscles and their relation to movement and posture; how muscles are used in the body; development of striated muscle; and histochemistry of developing skeletal and cardiac muscle.

The heterogeneity in size, shape, and arrangement of fibers coupled with a variety of metabolic, contractile, and endurance properties gives skeletal muscle the ability to perform a wide range of functions.

Over the years, our understanding of the molecular basis of muscle formation, growth, adaptability, and disease has dramatically : Ning Liu, Rhonda Bassel-Duby. A valuable study of the science behind the medicine, Muscle: Fundamental Biology and Mechanisms of Disease brings together key leaders in muscle biology.

These experts provide state-of-the-art insights into the three forms of muscle--cardiac, skeletal, and smooth--from molecular anatomy, basic physiology, disease mechanisms, and targets of therapy.

Skeletal muscle atrophy attributable to muscular inactivity has significant adverse functional consequences. While the initiating physiological event leading to atrophy seems to be the loss of muscle tension and a good deal of the physiology of muscle atrophy has been characterized, little is known about the triggers or the molecular signaling events underlying this by: Mandel JL, Laporte J, Buj-Bello A, Sewry C, Wallgren-Pettersson C () X-linked myotubular myopathy.

In: Karpati G (ed) Structural and molecular basis of skeletal muscle disease. ISN Neuropath Press, Basel, pp – Google Scholar. Even the chapter titles are based on the molecular basis of each group of diseases: sarcolemmal and extracellular matrix defects; myonuclear abnormalities; myofibrillar and internal cytoskeletal proteins; ion channel defects; complex molecular defects (myotonic, facioscapulohumeral, and oculopharyngeal muscular dystrophies), and catabolic disorders Cited by: Skeletal muscle diseases, or myopathies, are a diverse group of disorders that range in severity from mild muscle weakness to lethality and in onset from in utero to late adulthood.

Whilst in some cases the genetic basis of these diseases is known, understanding of the mechanism underlying muscle weakness is often lacking, and there are no Author: Emily Claire Baxter, Robert James Bryson-Richardson.

General pathological, immunopathological, and genetic background of skeletal muscle disorders 2. Diseases associated with sarcolemmal and extracellular matrix defects 3. Diseases associated with myonuclear abnormalities 4.

Molecular basis: mutations in titin gene, causing deficiency of titin protein; protein normally plays a role in muscle assembly and force transmission in skeletal and cardiac muscles Inheritance pattern: recessive (requires mutations in both copies of a gene to produce symptoms).

This book also discusses the molecular biology of chemical synaptic neurotransmission; proteins involved in the regulation of nervous system development; and gene expression in skeletal muscle. This text then concludes with a summary of the ""neurological gene map"" as it.

The book focuses on the molecular and cellular facets of skeletal muscle function. The selection first offers information on the mechanical properties of cross-bridges and their relation to muscle contraction; molecular basis of functional specialization in muscle as induced by innervation; and electrical properties of crustacean muscle Edition: 1.

Skeletal Muscle Definition. Skeletal muscle is one of the three types of muscles in the human body- the others being visceral and cardiac muscles. In this lesson, skeletal muscles, its definition, structure, properties, functions, and types are explained in an easy and detailed manner.

Click to Enlarge. The Biology of Exercise Book Series: A Cold Spring Harbor Perspectives in Medicine Collection Subject Area(s): Human Biology and Disease Edited by Juleen R. Zierath, Karolinska Institutet; Michael J.

Joyner, Mayo Clinic; John A. Hawley, Australian Catholic University Download a Free Excerpt from The Biology of Exercise.

Preface Molecular Basis of Exercise-Induced Skeletal. The ClC chloride channels catalyse the selective flow of Cl- ions across cell membranes, thereby regulating electrical excitation in skeletal muscle and the flow of salt and water across Cited by:.

Metabolic and functional impairments in skeletal muscle frequently occur. These range from the symptoms of pain and fatigue to pathological disorders that may result in muscle wasting. However, many of these symptoms and features of skeletal muscle disease occur in diverse conditions, each with different aetiologies, methods of diagnosis and treatment.5/5(2).

Structural and Molecular Basis of Skeletal Muscle Diseases G. Karpati, Basel, ISN Neuropath Press, pp., ill., Michael J. Aminoff MD, DSc Remarkable advances in molecular biology and immunocytochemistry have had a powerful influence on the way that muscle diseases .Skeletal Muscle: Form and Function, Second Edition,provides readers with a detailed understanding of the different facets of muscle physiology.

Meticulously researched and updated, this text examines motoneuron and muscle structure and function. It is intended for those who need to know about skeletal muscle--from undergraduate and graduate students gaining advanced knowledge in 5/5(1).