Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods

J Neurol. 2016 Oct;263(10):2133-5. doi: 10.1007/s00415-016-8268-z. Epub 2016 Aug 20.

¹ Don Carlo Gnocchi ONLUS Foundation, Milan, Italy. giorgiotasca81@gmail.com.
² Unit of Neuromuscular Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, Rome, Italy.
³ Institute of Neurology, Catholic University School of Medicine, Largo A. Gemelli 8, 00168, Rome, Italy.
⁴ Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.
⁵ Department of Medical Genetics, Folkhälsan Institute of Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.
⁶ Neuromuscular Research Center, University of Tampere and Tampere University Hospital, Tampere, Finland.
⁷ Neurology Department, Vaasa Central Hospital, Vaasa, Finland.
⁸ Department of Pathology, Bambino Gesu' Children's Research Hospital, Rome, Italy.

No abstract available

Publication types