Like all mammalian tissues, skeletal muscle is dependent on membrane traffic for proper development and homeostasis. This fact is underscored by the observation that several human diseases of the skeletal muscle are caused by mutations in gene products of the membrane trafficking machinery. An examination of these diseases and the proteins that underlie them is instructive both in terms of dete...

IgG4-RD can also present in the skeletal muscle, mimicking several other diseases. It is unusual for this relatively new classification of diseases to present in the muscles and can be mistakenly diagnosed as other autoimmune diseases rendering a delay in the appropriate management and progression of the disease.

Distinctive risk factors for disease are identifiable throughout life stages of large- and giant-breed dogs. From weaning to maturity, improper nutrition is linked to developmental skeletal diseases. As large dogs mature, skeletal diseases and obesity can lead to osteoarthritis. These dogs are difficult to manage when orthopedic or osteoarthritic disease affects mobility and quality of life, th...

LMNA-related disorders are caused by mutations in the LMNA gene, which encodes for the nuclear envelope proteins, lamin A and C, via alternative splicing. Laminopathies are associated with a wide range of disease phenotypes, including neuromuscular, cardiac, metabolic disorders and premature aging syndromes. The most frequent diseases associated with mutations in the LMNA gene are characterized...

During the last decade a considerable amount of data have been accumulated regarding the role of intracellular signaling pathways in the pathogenesis of human diseases. One of these, Notch signaling, well known for its significance in cellular development and tissue morphogenesis, has been increasingly recognized as a crucial participant in the pathogenetic mechanisms underlying certain skeleta...

Mitochondrial diseases are polymorphic entities which may affect many organs and systems. Skeletal muscle involvement is frequent in the context of systemic mitochondrial disease, but adult-onset pure mitochondrial myopathy appears to be rare. We report 3 patients with progressive skeletal mitochondrial myopathy starting in adult age. In all cases, the proximal myopathy was the only clinical fe...

Epidemiological studies in humans suggest that skeletal muscle aging is a risk factor for the development of several age-related diseases such as metabolic syndrome, cancer, Alzheimer's and Parkinson's disease. Here, we review recent studies in mammals and Drosophila highlighting how nutrient- and stress-sensing in skeletal muscle can influence lifespan and overall aging of the organism. In add...

OBJECTIVE Clarify the concept of vitamin D sufficiency, the relationship between efficacy and vitamin D status and the role of Vitamin D supplementation in the management of non-skeletal diseases. We outline reasons for anticipating different serum vitamin D levels are required for different diseases. METHOD Review the literature for evidence of efficacy of supplementation and minimum effecti...

Our understanding of the pathology of the nondystrophic myotonias and the periodic paralyses has profited immensely from the use of modern electrophysiology (three microelectrode voltage clamp, patch-clamp techniques) and molecular biology (candidate gene approaches in contrast to reverse genetics in other neuromuscular diseases). In the past few years it has become clear that--apart from the n...

The vitamin D is an essential factor for skeletal development, and its deficiency can cause growth retardation and skeletal deformities such as rickets [1,2]. Vitamin D3 (cholecalciferol) sourced from diet and ultraviolet B sunlight is metabolized to 25(OH) vitamin D (25(OH)D, calcidiol) in the liver, and then in the kidney to 1,25(OH)2 vitamin D (1,25(OH)2D, calcitriol) which is the biological...