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CMFTD in a 6-month-old boy (vastus lateralis muscle biopsy)

This muscle biopsy is from a 6-month-old boy with congenital muscle fiber-type disproportion. Formalin-fixed, paraffin-embedded, transverse section stained with hematoxylin-eosin shows normal fascicular architecture of the muscle, but 2 populations of fibers by size, hypoplastic and normal to hypertrophic fibers, neither of which exhibit central nuclei or other cytoarchitectural alterations; there is absence of myofiber necrosis, regeneration, or inflammation. Magnification x 100. (Contributed by Dr. Harvey Sarnat.)

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  • Cerebellar hypoplasia
  • Cori-Forbes disease
  • Debrancher enzyme deficiency
  • Emery-Dreifuss X-linked muscular dystrophy
  • Krabbe globoid cell leukodystrophy
  • Mitochondrial cytopathies
  • Moebius syndrome
  • Multiple sulfatase deficiencies
  • Myasthenia gravis, congenital
  • Nemaline rod myopathy
  • PHOX2B mutation
  • Pompe disease
  • Trendelenburg gait
  • Ullrich (collagen VI) muscular dystrophy