Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype.

Liang, Wen-Chen; Zhu, Wenhua; Mitsuhashi, Satomi; Noguchi, Satoru; Sacher, Michael; Ogawa, Megumu; Shih, Hsiang-Hung; Jong, Yuh-Jyh; Nishino, Ichizo

Liang, Wen-Chen; Zhu, Wenhua; Mitsuhashi, Satomi; Noguchi, Satoru; Sacher, Michael; Ogawa, Megumu; Shih, Hsiang-Hung; Jong, Yuh-Jyh; Nishino, Ichizo.

Afiliación

Liang WC; Departments of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.
Zhu W; Department of Pediatrics, School of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
Mitsuhashi S; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
Noguchi S; Department of Genome Medicine Development, Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan.
Sacher M; Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China.
Ogawa M; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
Shih HH; Department of Genome Medicine Development, Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan.
Jong YJ; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
Nishino I; Department of Genome Medicine Development, Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan.

Skelet Muscle ; 5: 29, 2015.

Article en En | MEDLINE | ID: mdl-26322222

Palabras clave

Cataract; Congenital muscular dystrophy; Endoplasmic reticulum-to-Golgi trafficking; Steatosis; Transport protein particle (TRAPP)

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Texto completo: 1 Bases de datos: MEDLINE Idioma: En Revista: Skelet Muscle Año: 2015 Tipo del documento: Article País de afiliación: Taiwán