A new mutation of the fukutin gene in a non-Japanese patient
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Dosyalar
Tarih
2003
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Wiley-Liss
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Fukuyama-type congenital muscular dystrophy (FCMD) , Walker-Warburg syndrome, and muscle-eye-brain disease are clinically similar autosomal recessive disorders characterized by congenital muscular dystrophy, cobblestone lissencephaly, and eye anomalies. FCMD is frequent in Japan, but no FCMD patient with confirmed fukutin gene mutations has been identified in a non-Japanese population. Here, we describe a Turkish CMD patient with severe brain and eye anomalies. Sequence analysis of the patient's DNA identified a homozygous 1bp insertion mutation in exon 5 of the fukutin gene. To our knowledge, this is the first case worldwide in which a fukutin mutation has been found outside the Japanese population. This report emphasizes the importance of considering fukutin mutations for diagnostic purposes outside of Japan.
Açıklama
Karacabey, Kursat/0000-0002-7647-5024; alper, murat/0000-0001-7069-0623; Kobayashi, Kazuhiro/0000-0001-7801-147X
WOS: 000181200400015
PubMed: 12601708
WOS: 000181200400015
PubMed: 12601708
Anahtar Kelimeler
Kaynak
Annals Of Neurology
WoS Q Değeri
Q1
Scopus Q Değeri
Cilt
53
Sayı
3
