Article
GNE myopathy associated with congenital thrombocytopenia: a report of two siblings.
Neuromuscular disorders : NMD - 1 Dec 2014
Izumi Rumiko, Niihori Tetsuya, Suzuki Naoki, Sasahara Yoji, Rikiishi Takeshi, Nishiyama Ayumi, Nishiyama Shuhei, Endo Kaoru, Kato Masaaki, Warita Hitoshi, Konno Hidehiko, Takahashi Toshiaki, Tateyama Maki, Nagashima Takeshi, Funayama Ryo, Nakayama Keiko, Kure Shigeo, Matsubara Yoichi, Aoki Yoko, Aoki Masashi
Abstract excerpt
GNE myopathy is an autosomal recessive muscular disorder caused by mutations in the gene encoding the key enzyme in sialic acid biosynthesis, UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE/MNK). Here, we report two siblings with myopathy with rimmed vacuoles and congenital thrombocytopenia who harbored two compound heterozygous GNE mutations, p.V603L and p.G739S. Thrombocytopenia, which is...
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