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X-linked spinal and bulbar muscular atrophy of late onset: A separate type of motor neuron disease?

✍ Scribed by C. Stefanis; Th. Papapetropoulos; S. Scarpalezos; G. Lygidakis; C.P. Panayiotopoulos


Book ID
118928291
Publisher
Elsevier Science
Year
1975
Tongue
English
Weight
907 KB
Volume
24
Category
Article
ISSN
0022-510X

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PRENATAL DIAGNOSIS OF X-LINKED SPINAL AN
✍ CHRISTOS YAPIJAKIS; ELISABETH KAPAKI; MARINA BOUSSIOU; DIMITRIS VASSILOPOULOS; C πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 495 KB πŸ‘ 2 views

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