Write an article on structure and function of the chloride channel: myotonia congenita Paper must be at least 2000 words. This paper will focus on the voltage-gated chloride channel channelopathy called Myotonia congenita that affects skeletal muscles. The paper will examine how defects in the chloride channel ion genes contribute to this disease, related cellular effects, and how it affects the skeletal muscles of affected individuals. The excitability of membranes is vital for muscle function and is usually regulated by Voltage-gated ion channels. Therefore, it is not surprising that ion channels are involved in the physiopathology of disorders of the skeletal muscle (Rott, Lerche & Horn, 2002). It will also exemplify research that is currently being conducted on this disorder.According to Zhang (1999), myotonia occurs due to delayed relaxation of a muscle after a voluntary contraction or mechanical stimulation. There are dystrophic and nondystrophic forms of myotonia that can be identified according to their clinical features. The nondystrophic myotonia includes three main types: myotonia congenita, paramyotonia congenital, and hyperkalemic periodic paralysis. Clinical electrophysiological studies of patients with these diseases revealed repetitive electrical discharges (myotonic runs). Normally, the myotonic runs occur in response to electrical and mechanical stimulation in muscles.Myotonia is the stiffness noticed upon initiation of movement. Myotonic dystrophy is also another myotonic disorder characterized by multisystem involvement. Patients with myotonic dystrophy have cataracts, cardiac arrhythmias, skeletal muscle problems, and other endocrine abnormalities (Harper & Ptacek et al. as cited in Zhang 1999). However, Myotonia congenital (MC), a subtype of Myotonia, is a genetic muscle disease associated with defects in the musculoskeletal chlorine voltage-gated ion channels C1C-1.Pathologically, MC is an inheritable skeletal muscle disorder that results from the diminished activity of the sarcolemmal voltage-gated chloride ion channels. The syndrome may be transmitted by either an autosomal dominant (Thomsens disease) or recessive generalized myotonia (Beckers myotonia) mode of inheritance.
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Structure and function of the chloride channel
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