## 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
โฆ LIBER โฆ
A family with periodic paralysis and muscular atrophy
โ 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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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