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Generalized hypotonia, thin muscle mass, and mild axial weakness (4)

Muscle biopsy in a 6-month-old boy. Myofibrillar ATPase preincubated at pH 4.4 is similar to pH 4.7, showing the entire population of small fibers to be type I. Magnification x 250. (Contributed by Dr. Harvey Sarnat.)

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