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ID: ZDB-IMAGE-220131-223
Publication: Liu et al., 2021 - GMPPB-congenital disorders of glycosylation associate with decreased enzymatic activity of GMPPB
All Figures: Figures for Liu et al., 2021

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Fig. 1

Clinical and genetic characterization. a Brain MRI of the patient at fetal 34 weeks, birth, 1 month, and 7 months, revealing evidence of cerebellar hypoplasia. b Muscle MRI in the right gluteus maximus muscle at 14 months. c Muscle biopsy from gastrocnemius at 14 months. The diameter of muscle fibers range between 5 and 50 μm, with occasional degenerated and regenerated muscle fibers. Scale bar: 50 μm d Sequence chromatograms of GMPPB gene of the patient. Variations and corresponding WT sequences are shown. The patient carries two missense mutations of GMPPB gene (arrows), inherited from his mother (c.332 T > G) and father (c.640G > A), respectively. e Pedigrees

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