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Generalized hypotonia, thin muscle mass, and mild axial weakness (2)

Muscle biopsy in a 6-month-old boy. Myofibrillar ATPase preincubated at pH 10.2 shows that the entire population of large fibers are type II and are uniformly distributed within the fascicles and not grouped. Magnification x 250. (Contributed by Dr. Harvey Sarnat.)

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Associated Disorders

  • Calpain 3 deficiency
  • 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