Skeletal muscles not only use glycogen but also lipid as a source of energy. The oxidation of lipids occurs in the mitochondria and involves a series of enzymatic reactions (…
In addition to the many inherited disorders already described in this book, nerves and muscles can be affected by a wide range of drugs and toxins. Some drug-related myopathies, such…
There have been major advances in the understanding of the underlying causes of the various myasthenic syndromes, all of which involve abnormalities related to the neuromuscular junction ( Fig. 21.1…
Introduction A vacuole is a membrane-bound area of a muscle fibre that may contain various cellular components or enzymes. The type and function of a vacuole vary, and the properties…
Action potentials in muscle, initiated by depolarization by a nerve impulse and depolarization of the muscle fibre, require the rapid movement of inorganic ions through transmembrane ion channels. The action…
There has been a dramatic increase in the understanding of disorders that affect the metabolism of muscle, particularly with regard to their biochemistry and molecular basis. A large number of…
In addition to inherited or acquired neuromuscular disorders, muscle weakness and alterations in muscle bulk can occur in association with several underlying conditions and as a consequence of ageing. Hormone…
Introduction The congenital myopathies are a clinically, genetically and pathologically heterogeneous group of muscle disorders defined in many patients by the presence of particular histopathological features. They emerged as a…
Facioscapulohumeral muscular dystrophy, myotonic muscular dystrophy and oculopharyngeal muscular dystrophy are dominantly inherited disorders, all of which have an unusual molecular defect involving nucleotide repeats. Clinically, facial weakness is a…
Joint contractures are a common complication of several neuromuscular disorders, but in some they are an early feature and specific joints are commonly affected. In particular, disorders known as Emery–Dreifuss…
