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A family with adult spinal and bulbar muscular atrophy, X-linked inheritance and associated testicular failure

✍ Scribed by Txomin Arbizu; Joan Santamaría; JoséManuel Gomez; Angel Quílez; Jaume Peres Serra


Book ID
118929674
Publisher
Elsevier Science
Year
1983
Tongue
English
Weight
830 KB
Volume
59
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 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 495 KB 👁 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