Sunday, April 12, 2009

Genetic Defects in Ion Channels

More than 20 different disorders due to defective
ion channel proteins resulting from gene
mutations are known. Such disorders include
cystic fibrosis (see p. 276), the long-QT syndrome,
a special type of deafness, hereditary
hypertension (Liddle syndrome), familial persistant
hyperinsulinemic hypoglycemia of infancy,
some hereditary muscle diseases, and
malignant hyperthermia (see p. 372), among
other disorders.

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