MFM3 (LGMD 1A): Myotilin mutations
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Aggregates Myopathy, Chronic Spheroid bodies Type 1 predominance Vacuoles |
Myopathy, Chronic
 H & E stain |
Perimysial connective tissue: Replaced by fat
Muscle fibers
Varied size
Some with vacuoles or aggregates
 Sudan black stain |
Sarcolemma: Irregular
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Clustered Regeneration
Several new regenerated muscle fibers in region previously occupied by one hypertrophied muscle fiber
 H&E stain |
 H&E stain |
 H&E stain |
Partial Fusion: Muscle fibers
 Gomori trichrome stain |
 NADH stain |
 H&E stain |
 VvG stain |
Contain internal nuclei
Branched Muscle Fiber (Top right): Fused at lower 2 images; Unfused (2 smaller fibers) at top
 Gomori trichrome stain |
 NADH stain |
Internal Nuclei
Many nuclei inside individual muscle fibers
 H&E stain |
 H&E stain |
 Congo red stain |
Spheroid Bodies
 H & E stain |
 Gomori trichrome stain |
 NADH stain |
 Myotilin stain |
 SMI-31 stain |
 SMI-31 stain |
 LC3 stain |
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LGMD 1A: Aggregates
 Gomori Trichrome stain |
 Gomori Trichrome stain |
 Gomori Trichrome stain |
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Muscle fiber pathology Varied fiber size Vacuoles Inclusions Hyaline & Cytoplasmic body-like material |
 GT stain; From: Drs Montse Olivé & Isidro Ferrer |
 NADH stain |
 VvG stain |
Internal architecture: Varied patterns
 NADH stain |
 NADH stain |
AGGREGATES
 Myotilin stain Myotilin aggregates in muscle fibers |
 VCP stain VCP aggregates in muscle fibers |
 Desmin stain Desmin aggregates in muscle fibers |
 Dystrophin stain Dystrophin: Abnormal collections in muscle fiber cytoplasm |
 Dys2 stain |
 Dys 7G1 (Rod domain, Exon 46) stain |
 δ-Sarcoglycan stain |
 Caveolin-3 stain |
 LAMP2 stain |
 Dysferlin stain |
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Aggregates: May contain Glycogen
 PAS stain |
LGMD 1A: Vacuoles
 H & E stain |
 H & E stain; From: Drs Montse Olivé & Isidro Ferrer Muscle fiber pathology Varied fiber size Abnormal internal architecture Hyaline inclusions Basophilic punctate material Vacuoles |
 H & E stain |
 H & E stain |
 Gomori Trichrome stain |
LGMD 1A: Type 1 muscle fiber predominance
 ATPase pH 4.3 stain |
Return to Neuromuscular
Return to LGMD 1A
1. Int J Mol Sci 2026;27:684
1/29/2026