Just Expect It: Compound Heterozygous Variants of POMT1 in a Consanguineous Family-The Role of Next Generation Sequencing in Neuromuscular Disorders

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作者： von der Hagen, Maja ^[1] ; Becker, Lena-Luise ^[2] ; Wienker, Thomas F. ^[3] ; Smitka, Martin ^[4] ; Musante, Luciana ; Ropers, Hans-Hilger ; Huebner, Angela ; Hu, Hao ; Kaindl, Angela M.

作者单位： Charite Univ Med Berlin, Klin Padiatrie Schwerpunkt Neurol, Augustenburger Pl 1, Berlin, Germany ^[1] Tech Univ Dresden, Univ klinikum Carl Gustav Carus, Klin Kinder & Jugendmed, Dresden, Germany ^[2] Tech Univ Dresden, Univ Klinikum Carl Gustav Carus, Abt Neuropadiatrie, Dresden, Germany ^[3] Max Planck Inst Mol Genet, Ihnestr 63-73, Berlin, Germany ^[4]

关键词 compound heterozygosity consanguineous POMT1 congenital muscular dystrophy dystrogylcanopathies developmental delay microcephaly

发布时间 2020-10-22

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