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Journal of Pediatric Neurology 2012; 10(01): 063-066
DOI: 10.3233/JPN-2012-0515
Georg Thieme Verlag KG Stuttgart – New York

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

Mustafa Ozcetin
a   Department of Pediatrics, Karaelmas University Faculty of Medicine, Zonguldak, Turkey
,
Omer Ates
b   Department of Medical Biology, Gaziosmanpasa University Faculty of Medicine, Tokat, Turkey
,
Semiha Kurt
c   Department of Neurology, Gaziosmanpasa University Faculty of Medicine, Tokat, Turkey
,
M. Murat Firat
c   Department of Neurology, Gaziosmanpasa University Faculty of Medicine, Tokat, Turkey
,
Fatma Silan
d   Department of Genetics, Faculty of Medicine, Onsekiz Mart University, Çanakkale, Turkey
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Publication History

21 March 2011

06 June 2011

Publication Date:
30 July 2015 (online)

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Abstract

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.

Keywords

Congenital muscular dystrophy - Fukuyama muscular dystrophy - fukutin gene - missense mutation