Fig 1.
Flowchart of patients’ enrollment.
Fig 2.
Overview of diagnoses of patients and spectrum of LGMD subtypes.
Table 1.
Histopathological abnormalities in different LGMD subtypesa.
Fig 3.
Myopathological changes of LGMD patients.
A. NADH-TR staining shows lobulated fibers (arrow) in a LGMD2B patient. B. MGT staining shows red-ragged fibers (arrow) in a LGMD2B patient. C. MGT staining shows nemaline bodies (arrow) in a LGMD2A patient. D. NADH-TR staining shows multi-minicores (arrow) in a LGMD2A patient. E. Immunohistochemical labelling of N-terminal dystrophin shows decreased or absent expression (asterisk) in a LGMD2A patient. F. Immunohistochemical labelling of dysferlin shows decreased expression (asterisk) in a LGMD2A patient. Abbreviations: LGMD = limb-girdle muscular dystrophy; NADH-TR = nicotinamide adenine dinucleotide-tetrazolium reductase; MGT = modified Gomori trichrome.
Table 2.
Immunohistochemical findings in different LGMD subtypesa.