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

von der Hagen, M; Becker, LL; Wienker, TF; Smitka, M; Musante, L; Ropers, HH; Huebner, A; Hu, H; Kaindl, AM

Kaindl, AM (corresponding author), Charite Univ Med Berlin, Pediat Neurol, Campus Virchow Klinikum, Augustenburger Pl 1, D-13353 Berlin, Germany.

NEUROPEDIATRICS, 2020; 51 (1): 72

Abstract

Muscular dystrophy-dystroglycanopathies (MDDG) are a group of genetically heterogeneous autosomal recessive disorders characterized by hypoglycosylati......

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