CAG repeat polymorphism in the androgen receptor [AR] gene of SBMA patients and a control group

• Autorzy: Sulek A , Hoffman-Zacharska D , Krysa W , Szirkowiec W , Fidzianska E , Zaremba J
• Języki publikacji: EN

Abstrakty

EN

Spinobulbar muscular atrophy (SBMA) is an X-linked form of motor neuron disease characterized by progressive atrophy of the muscles, dysphagia, dysarthria and mild androgen insensitivity. SBMA is caused by CAG repeat expansion in the androgen receptor gene. CAG repeat polymorphism was analysed in a Polish control group (n = 150) and patients suspected of SBMA (n = 60). Normal and abnormal ranges of CAG repeats were established in the control group and in 21 patients whose clinical diagnosis of SBMA was molecularly confirmed. The ranges are similar to those reported for other populations.

Słowa kluczowe

EN

patient; genetics; muscle atrophy; spinobulbar muscular atrophy; dysarthria; androgen receptor gene; atrophy; dysphagia; motor neuron disease

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 2005
• Tom: 46
• Numer: 2
• Opis fizyczny: p.237-239,fig.,ref.

Twórcy

autor

Sulek A

• Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9, 02-957 Warsaw, Poland

autor

Hoffman-Zacharska D

• Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9, 02-957 Warsaw, Poland
• Neurogenetics Unit, Department of Neurology, Epileptology and Sleep Disorders, Institute of Mother and Child, Warszawa, Poland

autor

Krysa W

• Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9, 02-957 Warsaw, Poland

autor

Szirkowiec W

• Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9, 02-957 Warsaw, Poland

autor

Fidzianska E

• Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9, 02-957 Warsaw, Poland

autor

Zaremba J

• Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9, 02-957 Warsaw, Poland

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