X-linked spinal muscular atrophy 2
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X-linked spinal muscular atrophy 2 | |
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Classification and external resources | |
OMIM | 301830 |
X-linked spinal muscular atrophy 2 (SMAX2) is a form of spinal muscular atrophy.
It is similar to but distinguishable from Werdnig-Hoffmann disease. Typically it manifests at or before birth, which is unusual for SMN-SMA, and it only affects boys, where SMN-SMA affects both sexes equally.
The "2" is used to distinguish the condition from Kennedy disease. However, the "2" is not always used. In this context, the condition may simply be abbreviated "XL-SMA".[1]
It is associated with UBE1.[2]
References
- ^ Dressman D, Ahearn ME, Yariz KO, et al. (January 2007). "X-linked infantile spinal muscular atrophy: clinical definition and molecular mapping". Genet. Med. 9 (1): 52–60. doi: . PMID 17224690. http://meta.wkhealth.com/pt/pt-core/template-journal/lwwgateway/media/landingpage.htm?issn=1098-3600&volume=9&issue=1&spage=52.
- ^ Ramser J, Ahearn ME, Lenski C, et al. (January 2008). [Expression error: Missing operand for > "Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy"]. Am. J. Hum. Genet. 82 (1): 188–93. doi: . PMID 18179898.
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