Type IV hyperlipoproteinemia and moderate instability of CAG triplet expansion in the androgen-receptor gene. Lipid, sex hormone and molecular study in a Chinese family with Kennedy-Alter-Sung disease.

Abstract excerpt

Kennedy-Alter-Sung (KAS) disease in a hereditary lower motor neuron disease. In this study, we investigate 2 KAS patients presenting with progressive muscle weakness and wasting, action tremor, perioral fasciculation and gynecomastia. Three carriers and 5 healthy members from this 3-generation KAS Chinese family and 60 normal Chinese controls were included in this study. Hormone studies revealed normal serum...

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