Phenotypic differences in a large family with Kennedy's disease from the Middle Black Sea region of Turkey
Küçük Resim Yok
Tarih
2010
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Informa Healthcare
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
The family consisted of 128 individuals over five generations, with two consanguineous parents, one slightly affected female, and 12 affected males with SBMA. We studied the five surviving male patients and one surviving female carrier. The age at disease onset, phenotypic features, and disease severity varied among the family members. DNA analysis was performed on five individuals, belonging to five generations of the family. Four affected males and a slightly affected female carrier were shown to carry an expanded CAG repeat in the androgen receptor gene. This family report is consistent with previous studies suggesting that SBMA may be present with a wide clinical spectrum in affected family members. Further descriptions of SBMA affected families with different ethnic backgrounds may assist in identifying possible phenotypic and genetic features of the disease.
Açıklama
Anahtar Kelimeler
Kennedy's disease, X-linked spinal and bulbar muscle atrophy (SBMA), Turkish family
Kaynak
Amyotrophic Lateral Sclerosis
WoS Q Değeri
Q2
Scopus Q Değeri
N/A
Cilt
11
Sayı
1-2
