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Plectin Mutations: Myopathy + Epidermolysis Bullosa

From: Chunyu (Hunter) Cai

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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

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Desmin stain

Muscle fiber Aggregates
  Punctate cytoplasmic staining for Desmin & Dysferlin

Dysferlin stain

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Muscle fiber Aggregates

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Muscle fiber Aggregates   Cytoplasmic body

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Muscle fiber Aggregates
  Subsarcolemmal filamentous collections

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

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Nuclear Pathology
  Chains
Nuclear Pathology
  Clusters

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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