Pathologic quiz case: a slow and awkward child. Central core disease

Arch Pathol Lab Med. 2004 Apr;128(4):481-2. doi: 10.5858/2004-128-481-PQCASA.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • Child
  • Chromosomes, Human, Pair 19 / genetics
  • Developmental Disabilities / etiology*
  • Humans
  • Male
  • Muscle, Skeletal / pathology*
  • Myopathy, Central Core / complications
  • Myopathy, Central Core / diagnosis*
  • Myopathy, Central Core / genetics
  • Myopathy, Central Core / pathology
  • Ryanodine Receptor Calcium Release Channel / deficiency
  • Ryanodine Receptor Calcium Release Channel / genetics

Substances

  • Ryanodine Receptor Calcium Release Channel