Friedreich's ataxia causes: Difference between revisions
Jump to navigation
Jump to search
Aditya Ganti (talk | contribs) Created page with "__NOTOC__ {{Friedreich's ataxia}} {{CMG}} ; {{AE}} ==Overview== ==Causes== Genetic Causes It is understood that Friedreich’s ataxia is the result of a homozygous guanine-a..." |
|||
| Line 1: | Line 1: | ||
__NOTOC__ | __NOTOC__ | ||
{{Friedreich's ataxia}} | {{Friedreich's ataxia}} | ||
{{CMG}} ; {{AE}} | {{CMG}} ; {{AE}}[[User:M Jahan|Mohamadmostafa Jahansouz M.D.]][[Mailto:mjahanso@bidmc.harvard.edu|[2]]] | ||
==Overview== | ==Overview== | ||
==Causes== | ==Causes== | ||
Genetic Causes | ===Genetic Causes=== | ||
It is understood that Friedreich’s ataxia is the result of a homozygous guanine-adenine-adenine (GAA) trinucleotide repeat expansion on chromosome 9q13 that causes a transcriptional defect of the frataxin gene. | *It is understood that Friedreich’s ataxia is the result of a [[homozygous]] [[guanine]]-[[adenine]]-[[adenine]] (GAA) [[Trinucleotide repeat expansion disorders|trinucleotide repeat expansion]] on chromosome 9q13 that causes a transcriptional defect of the [[frataxin]] gene. | ||
Frataxin is a small mitochondrial protein and deficiency of frataxin is responsible for all clinical and morphological manifestations of Friedreich’s ataxia. | *[[Frataxin]] is a small mitochondrial protein and deficiency of [[frataxin]] is responsible for all clinical and morphological manifestations of Friedreich’s ataxia. | ||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
Revision as of 18:05, 15 April 2019
|
Friedreich's ataxia Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Friedreich's ataxia causes On the Web |
|
American Roentgen Ray Society Images of Friedreich's ataxia causes |
|
Risk calculators and risk factors for Friedreich's ataxia causes |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Mohamadmostafa Jahansouz M.D.[[2]]
Overview
Causes
Genetic Causes
- It is understood that Friedreich’s ataxia is the result of a homozygous guanine-adenine-adenine (GAA) trinucleotide repeat expansion on chromosome 9q13 that causes a transcriptional defect of the frataxin gene.
- Frataxin is a small mitochondrial protein and deficiency of frataxin is responsible for all clinical and morphological manifestations of Friedreich’s ataxia.