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A family with periodic paralysis and muscular atrophy

โœ Scribed by J. Sanders


Publisher
Springer Netherlands
Year
1934
Tongue
English
Weight
140 KB
Volume
16
Category
Article
ISSN
0016-6707

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Progressive muscle atrophy with hypokale
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## Abstract A family with hypokalemic periodic paralysis (HypoPP) and motor neuron degeneration is reported. In conjunction with HypoPP, the index patient developed progressive muscle atrophy. The calcium channel gene __CACNA1S__ showed a mutation encoding p.R528H, which has been related previously

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X-linked spinal and bulbar muscular atrophy (SBMA) is a late-onset motor neuron disorder which is caused by an expansion of the trinucleotide repeat (CAG), in the first exon of the androgen receptor gene. Two cases of prenatal testing for the disease in a Greek family are reported. An affected male