期刊
NEUROMUSCULAR DISORDERS
卷 19, 期 3, 页码 182-188出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2008.12.005
关键词
Fukutin; Muscular dystrophy; Mental retardation; FKRP; HyperCKaemia
资金
- Institut National de la Sante et de la Recherche Medicale (INSERM)
- Association Francaise contre les Myopathies (AFM)
- GIS Maladies Rares (Network on Congenital Muscular dystrophy)
- Euroglycanet [LSHM-CT2005-512131]
Fukuyama congenital muscular dystrophy (FCMD) is frequent in Japan, due to a founder mutation of the fukutin gene (FKTN). Outside Japan, FKTN mutations have only been reported in a few patients with a wide spectrum of phenotypes from Walker-Warburg syndrome to limb-girdle muscular dystrophy (LGMD2M). We studied four new Caucasian patients from three unrelated families. All showed raised serum CK initially isolated in one case and muscular dystrophy. Immunohistochemical studies and haplotype analysis led us to search for mutations in FKTN. Two patients (two sisters) presented with congenital muscular dystrophy, mental retardation, and posterior fossa malformation including cysts, and brain atrophy at Brain MRI. The other two patients had normal intelligence and brain MRI. Sequencing of the FKTN gene identified three previously described mutations and two novel missense mutations. Outside Japan, fukutinopathies are associated with a large spectrum of phenotypes from isolated hyperCKaemia to severe CMD, showing a clear overlap with that of FKRP. (C) 2009 Published by Elsevier B.V.
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