Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0162671 (
MELAS
)
587
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We describe a patient with isolated exercise intolerance caused by a new, maternally inherited mutation in mitochondrial DNA. The heteroplasmic T>C transition at position 13271 in
MTND5
affects a highly conserved base and segregates with the disease, being present at highest levels in skeletal muscle fibres showing abnormal mitochondrial accumulation. This is the 15th mutation affecting the
MTND5
subunit of respiratory chain complex I and confirms this protein as an important site for disease with phenotypes ranging from
MELAS
and infantile encephalopathies to isolated syndromes affecting a single tissue such as Leber hereditary optic neuropathy and now skeletal muscle.
...
PMID:A novel mitochondrial ND5 (MTND5) gene mutation giving isolated exercise intolerance. 1839 45
