Affiliations: Department of Pediatrics, Karaelmas University Faculty
of Medicine, Zonguldak, Turkey | Department of Medical Biology, Gaziosmanpasa
University Faculty of Medicine, Tokat, Turkey | Department of Neurology, Gaziosmanpasa University
Faculty of Medicine, Tokat, Turkey | Department of Genetics, Faculty of Medicine, Onsekiz
Mart University, Çanakkale, Turkey
Note: [] Correspondence: Dr. Mustafa Ozcetin, Department of Pediatrics,
Karaelmas Faculty of Medicine, 67600 Zonguldak, Turkey. E-mail:
[email protected]
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.
