Myotonic dystrophy type 1 (DM1) is caused by a CTG expansion mutation located in the 3' untranslated portion of the dystrophica myotonin protein kinase gene. The identification and characterization of RNA-binding proteins that interact with expanded CUG repeats and the discovery that a similar transcribed but untranslated CCTG expansion in an intron causes myotonic dystrophy type 2 (DM2) have u...

Autoimmune neuromuscular disorders affecting peripheral nerves, neuromuscular junction or muscle have a wide clinical spectrum with diverse pathogenetic mechanisms. Peripheral nervous system may be targeted in the context of complex immune reactions involving different cytokines, antigen-presenting cells, B cells and different types of T cells. Various immunomodulating and cytotoxic treatments ...

Feline neuromuscular diseases may be classifi ed according to their location as those involving peripheral nerves and/or nerve roots, those involving the neuromuscular junction, and those that involve muscle (1). Each of these neuromuscular diseases will produce lower motor neuron (LMN) disease, however signifi cant variations in clinical signs may occur. Peripheral nerve and muscle diseases re...

Many neuromuscular disorders affect more than skeletal muscle. Because of the common structural and now more apparent molecular features between skeletal and cardiac muscles, many of the neuromuscular disorders also result in cardiovascular complications. Cardiomyopathy and conduction system diseases are the most frequent extramuscular features seen with many muscular dystrophies. The most comm...

This book, Volume 306 in the series Progress in Clinical and Biological Research, is the record of the Fifth Inernational Clinical Genetics Seminar held in Crete, October 1988. Over 60 contributors from all over the world participated in this conference, and their individual papers comprise the volume. Six sections include the following topics: muscular dystrophies, spinal muscular atrophies, m...

2. The normal sensori-motor nerve conduction with absent F-waves and tendon jerks of a moderately de-saturated semiconscious patient in the intensive care unit may be seen in: a. A classical pattern of critical illness myopathy involving both proximal and distal muscles b. Post-synaptic neuromuscular disorder c. The early stages of motor neuron disease (MND) (axonal loss) before the period of W...

Neuromuscular junction (NMJ) disorders result from destruction, malfunction or absence of one or more key proteins involved in neuromuscular transmission, illustrated diagrammatically in fig 1. The most common pathology is antibody mediated damage or down regulation of ion channels or receptors, resulting in myasthenia gravis (MG), Lambert-Eaton myasthenic syndrome (LEMS), and acquired neuromyo...

Tetracyclines are a class of antibiotics which could act as neuroprotective molecules in several neurological disorders, such as Huntington disease, Parkinson disease, stroke and multiple sclerosis. The main biological effects of tetracyclines are the inhibition of microglial activation, the attenuation of apoptosis and the suppression of reactive oxygen species production. The anti-apoptotic e...