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Muscle biopsy in LGMD type 2I (2)

(Fukutin related protein muscular dystrophy, FKRP) Alpha-dystroglycan immunohistochemical stain (A) reveals markedly decreased or absent immunoreactivity in most muscle fibers. FKRP encodes a putative glycosyltransferase protein that is involved in alpha-dystroglycan glycosylation; alpha-dystroglycan levels are reduced in this condition. Reactivity for beta dystroglycan in the same patient is preserved (B). (Contributed by Dr. Andrew Waclawik.)

Associated Disorders

  • Becker muscular dystrophy
  • CIDP
  • Charcot-Marie-Tooth disease
  • Duchenne muscular dystrophy
  • Kearns-Sayre syndrome
  • Kugelberg-Welander disease
  • McArdle disease
  • Miyoshi distal myopathy
  • NARP
  • Nonaka distal myopathy
  • Stormorken syndrome
  • Welander distal myopathy
  • Werdnig-Hoffman disease
  • acid maltase deficiency
  • amyloidosis
  • carnitine palmitoyltransferase deficiency
  • central core disease
  • centronuclear myopathy
  • congenital fiber-type disproportion
  • cysticercosis
  • denervation atrophy
  • dermatomyositis
  • facioscapulohumeral muscular dystrophy
  • hereditary neuropathy with pressure palsy
  • inclusion-body myositis
  • leprous neuropathy
  • limb-girdle muscular dystrophy
  • myotubular myopathy
  • nemaline rod myopathy
  • peripheral nerve vasculitis
  • polymyositis
  • progressive external ophthalmoplegia
  • sarcoid myopathy
  • sarcoid neuropathy
  • spinal muscular atrophy
  • toxoplasmosis
  • trichinellosis
  • tubular aggregates myopathy