Article
Evidence for genetic heterogeneity supports clinical differences in congenital myasthenic syndromes.
Human heredity - 1 Jan 2000
Menold M M, Sadeh M, Lennon F, Blatt I, Goldhammer Y, Yamaoka L H, Vance J M, Pericak-Vance M A
Abstract excerpt
Congenital myasthenic syndromes (CMS) define a diverse group of disorders, all of which compromise neuromuscular transmission. Symptoms can be present at birth or appear during childhood, and can range in severity. Both autosomal dominant and recessive forms exist, and a number of clinical subtypes have been described. The cause of many cases of CMS has been traced to mutations in the genes for the acetylcholine...
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