A case of congenital muscular dystrophy similar to fukuyama-type with a missense mutation in the fukutin gene

Ozcetin M., Ates O., Kurt S., Firat M. M., SILAN F.

Journal of Pediatric Neurology, cilt.10, sa.1, ss.63-66, 2012 (Scopus) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 10 Sayı: 1
  • Basım Tarihi: 2012
  • Doi Numarası: 10.3233/jpn-2012-0515
  • Dergi Adı: Journal of Pediatric Neurology
  • Derginin Tarandığı İndeksler: Scopus
  • Sayfa Sayıları: ss.63-66
  • Anahtar Kelimeler: Congenital muscular dystrophy, fukutin gene, Fukuyama muscular dystrophy, missense mutation
  • Çanakkale Onsekiz Mart Üniversitesi Adresli: Evet

Özet

The term congenital muscular dystrophy (CMD) refers to a group of inherited disorders in which muscle weakness is present at birth. The Fukuyama-type CMD is an independent subtype of progressive muscular dystrophy in Japan. This report presents the case of a 13-year-old male who applied to our clinic and was diagnosed as CMD similar to the Fukuyama-type based on the results of the genetic analysis. The most frequently defined mutation in these patients is on the fukutin-related protein gene whereas in the present case, one missense mutation in the fukutin gene has been detected. To our knowledge, the case described in this report is the first reported case of one missense mutation in the fukutin gene c.1336A>G (p.Asn446Asp) producing a phenotype similar to the Fukuyama-type. © 2012 - IOS Press and the authors. All rights reserved.