MUSCLE AND NERVE PATHOLOGY

Published on 08/03/2015 by admin

Filed under Pathology

Last modified 08/03/2015

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CHAPTER 17 MUSCLE AND NERVE PATHOLOGY

MUSCLE BIOPSY

Overview

Histochemical and immunohistochemical stains

Myopathic changes

General morphological changes that should be reported

MUSCULAR DYSTROPHY

DYSTROPHINOPATHIES (DUCHENNE AND BECKER MUSCULAR DYSTROPHY)

Clinical features

DEFECTS IN NUCLEAR MEMBRANE PROTEINS (INCLUDING EMERY–DREIFUSS DYSTROPHY)

LIMB GIRDLE MUSCULAR DYSTROPHIES (LGMD)

SARCOGLYCANOPATHIES

Genetics

Table 17.2 Sarcoglycanopathies

  Syndrome Ethnicity
α LGMD2D No association
β LGMD2E  
γ LGMD2C  
  Severe childhood autosomal recessive muscular dystrophy (SCARMD) North Africa
  Recessive muscular dystrophy of European Gypsies European Gypsies
δ LGMD2F Brazil