A case of congenital muscular dystrophy similar to Fukuyama-type with a missense mutation in the fukutin gene
Mustafa Ozcetin, Omer Ates, Semiha Kurt, M. Murat Firat, Fatma Silan
article (Uluslararası, Hakemli) | Yazar(lar): Mustafa Ozcetin, Omer Ates, Semiha Kurt, M. Murat Firat, Fatma Silan | Yıl: 2012 | Dergi/Kurum: JOURNAL OF PEDIATRIC NEUROLOGY | İndeks: WOS.ESCI | DOI: 10.3233/jpn-2012-0515 | Anahtar Kelimeler: Congenital muscular dystrophy, Fukuyama muscular dystrophy, fukutin gene, miss
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.