Neuromuscular

LGMD 1A: Myotilin mutations

From: Drs Montse Olivé & Isidro Ferrer


H & E stain

Muscle fiber pathology
  Varied fiber size
  Vacuoles
  Abnormal internal architecture
    Hyaline inclusions
    Basophilic punctate material


GT stain

Muscle fiber pathology
  Varied fiber size
  Vacuoles
  Inclusions: Hyaline & Rod-like material


Myotilin stain

Myotilin aggregates in muscle fibers


Dystrophin stain

Abnormal collections of dystrophin in muscle fiber cytoplasm

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12/14/2005