Clinical Reasoning: A 12-month-old child with hypotonia and developmental delays

Neurology. 2020 Jul 28;95(4):184-187. doi: 10.1212/WNL.0000000000009912. Epub 2020 Jul 15.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Carrier Proteins / genetics
  • Developmental Disabilities / etiology*
  • Exome Sequencing / methods
  • Female
  • Humans
  • Infant
  • Metabolomics / methods
  • Mitochondrial Diseases / complications*
  • Mitochondrial Diseases / diagnosis*
  • Mitochondrial Diseases / genetics
  • Muscle Hypotonia / etiology*

Substances

  • Carrier Proteins
  • NFU1 protein, human

Supplementary concepts

  • Multiple Mitochondrial Dysfunctions Syndrome