Case 2: Hypotonia and Muscle Weakness since Birth in a 2-year-old Boy

Pediatr Rev. 2017 Nov;38(11):531. doi: 10.1542/pir.2016-0187.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Genetic Markers
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Muscle Hypotonia / etiology*
  • Muscle Proteins / genetics
  • Muscle Weakness / etiology*
  • Myasthenic Syndromes, Congenital / complications
  • Myasthenic Syndromes, Congenital / diagnosis*
  • Myasthenic Syndromes, Congenital / genetics

Substances

  • DOK7 protein, human
  • Genetic Markers
  • Muscle Proteins