Neuromuscular

Plectin Mutations: Myopathy + Epidermolysis Bullosa

Fron: Chunyu (Hunter) Cai

H&E stain
Myopathic features
  Muscle Fibers
    Necrosis: Scattered
    Size: Varied
    Nuclei: Internal; Often clustered
    Cytoplasm: Irregular clear regions
  Endomysial connective tissue: Increased

H&E stain

H&E stain


Desmin stain
Muscle fiber Aggregates
  Punctate cytoplasmic staining for Desmin & Dysferlin

Dysferlin stain


Muscle fiber Aggregates



Muscle fiber Aggregates
  Cytoplasmic body


Muscle fiber Aggregates
  Subsarcolemmal filamentous collections



Muscle fiber pathology
  Subsarcolemmal Z-band disruption & separation from surface membrane


Nuclear Pathology
  Chains


Nuclear Pathology
  Clusters

Mitochondrial Pathology

SDH + COX stain
Muscle fibers with
  COX stain: Reduced
  SDH stain: Increased

SDH stain

Mitochondrial Pathology
  Elongated mitochondria


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4/21/2018