Neuromuscular

LGMD 1A: Myotilin mutations

Aggregates
Myopathy, Chronic
Spheroid bodies
Type 1 predominance
Vacuoles

Myopathy, Chronic

H & E stain
Chronic myopthy
  Perimysial connective tissue: Replaced by fat
  Muscle fibers
    Varied size
    Some with vacuoles or aggregates

Sudan black stain

Sarcolemma: Irregular


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
Large, Partially-fused Muscle fibers: contains 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
LGMD 1A: Spheroid bodies

Gomori trichrome stain

NADH stain

Myotilin stain

SMI-31 stain

SMI-31 stain

LC3 stain

Spheroid bodies: Ultrastructure
Spheroid bodies: Ultrastructure, Fibrillar components

LGMD 1A: Aggregates

Gomori Trichrome stain

Gomori Trichrome stain

Gomori Trichrome stain
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


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

9/12/2018