Tissue-Specific Somatic Mosaicism in Spinal and Bulbar Muscular Atrophy Is Dependent on CAG-Repeat Length and Androgen Receptor–Gene Expression Level

The factors influencing the tissue-specific pattern of somatic mosaicism in CAG-repeat diseases have not yet been fully resolved. We performed a detailed analysis of the degree of somatic mosaicism in various tissues from 20 patients with spinal and bulbar muscular atrophy (SBMA), including 4 who we...

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Veröffentlicht in:	American journal of human genetics 1999-10, Vol.65 (4), p.966-973
Hauptverfasser:	Tanaka, Fumiaki, Reeves, Matthew F., Ito, Yasuhiro, Matsumoto, Michiyo, Li, Mei, Miwa, Shigeru, Inukai, Akira, Yamamoto, Masahiko, Doyu, Manabu, Yoshida, Mari, Hashizume, Yoshio, Terao, Shin-ichi, Mitsuma, Terunori, Sobue, Gen
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Aged Aging - genetics Alleles Androgen receptor gene expression Biological and medical sciences CAG repeat Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases DRPLA Gene Expression Humans Huntington disease Huntington Disease - genetics Male Medical sciences Middle Aged Mitosis Molecular Sequence Data Mosaicism - genetics Muscle, Skeletal - metabolism Muscle, Skeletal - pathology Muscular Disorders, Atrophic - genetics Muscular Disorders, Atrophic - pathology Myocardium - metabolism Myocardium - pathology Myoclonic Epilepsies, Progressive - genetics Neurology Organ Specificity Prostate - metabolism Prostate - pathology Receptors, Androgen - genetics SBMA Skin - metabolism Skin - pathology Somatic mosaicism Testis - metabolism Testis - pathology Trinucleotide Repeat Expansion - genetics Trinucleotide Repeats - genetics
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