DIFFERENTIAL-DIAGNOSIS IN SPINAL AND BULBAR MUSCULAR-ATROPHY CLINICAL AND MOLECULAR ASPECTS

JOURNAL OF THE NEUROLOGICAL SCIENCES

卷:129

Article; Proceedings Paper

JOBSIS, GJ ; LOUWERSE, ES ; DEVISSER, M ; WOLTERMAN, RA ; BOLHUIS, PA ; BUSCH, HFM ; BRUGGENWIRTH, HT ; BAAS, F ; WIERSINGA, WM ; KOELMAN, JHTM ; DEJONG, JMBV

关键词: MOTOR NEURON DISEASE;    KENNEDY DISEASE;    ANDROGEN RECEPTOR GENE;    ANDROGEN SENSITIVITY;    TRINUCLEOTIDE REPEAT;   

DOI  :  10.1016/0022-510X(95)00064-9

来源: Elsevier

【 摘 要 】

Kennedy disease is caused by an enlarged trinucleotide repeat sequence within the androgen receptor gene. We report here seven male patients with a benign motor neuron syndrome highly analogous to Kennedy disease but with a normal trinucleotide repeat.

【 授权许可】

Free