Articles Posted byjamie

Mitochondrial Encephalopathy Includes: Encephalomyopathy, Encephalomyelopathy NIH Link:...

MNGIE Long Name: Myoneurogastointestinal Disorder and Encephalopathy Symptoms: Progressive external ophthalmoplegia, limb weakness, peripheral...

NARP Long Name: Neuropathy, Ataxia, and Retinitis Pigmentosa Cause: Mitochondrial DNA point mutations in genes associated with Complex V:...

Pearson Syndrome Symptoms: Bone marrow and pancreas dysfunction Cause: Single mitochondrial DNA deletions. Inheritance is usually sporadic....

POLG Mutations See: Mitochondrial News Volume 14 Issue 2 See: POLG Related Disorders – https://www.ncbi.nlm.nih.gov/pubmed/20301791 NIH Link:...

Pyruvate Carboxylase Deficiency Symptoms: Lactic acidosis, hypoglycemia, severe retardation, failure to thrive Common Symptoms: Seizures and...