Matches in SemOpenAlex for { <https://semopenalex.org/work/W3022974308> ?p ?o ?g. }
- W3022974308 abstract "Publisher SummaryFriedreich ataxia (FRDA) is an inherited recessive disorder characterized by progressive neurological disability and heart abnormalities that may be fatal. The disease affects roughly 1 in 50,000 people, making it one of the most important genetic disorders of its kind. The first symptoms usually appear in childhood, but age of onset may vary from infancy to adulthood. Atrophy of sensory and cerebellar pathways causes ataxia, dysarthria, fixation instability, deep sensory loss, and loss of tendon reflexes. Corticospinal degeneration leads to muscular weakness and extensor plantar responses. A hypertrophic cardiomyopathy may contribute to disability and cause premature death. Other common problems include kyphoscoliosis, pes cavus, and, in 10% of patients, diabetes mellitus. The Friedreich ataxia gene encodes a small mitochondrial protein, frataxin, which is produced in insufficient amounts in the disease, as a consequence of a GAA triplet repeat expansion in the first intron of the gene. Frataxin deficiency leads to excessive free radical production in mitochondria, progressive iron accumulation in these organelles, and dysfunction of iron–sulphur center containing enzymes." @default.
- W3022974308 created "2020-05-13" @default.
- W3022974308 creator A5080418392 @default.
- W3022974308 date "2003-01-01" @default.
- W3022974308 modified "2023-09-26" @default.
- W3022974308 title "Friedreich Ataxia" @default.
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