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Fig. 3 | Orphanet Journal of Rare Diseases

Fig. 3

From: Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

Fig. 3

Western blot analysis of patients with mutations in the GMPPB gene. Consistent lower mobility shift of β-dystroglycan (β-DG) and variable expression of laminin α2 (LAMA2) in skeletal muscle biopsies from five patients (P1, P2, P3, P6, and P7) with mutations in the GMPPB gene. Myosin heavy chain (MHC) was used as measure of protein loading. CTRL, control muscle

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172