Congenital fiber type disproportion
Congenital fiber type disproportion (CFTD) is an inherited form of myopathy with small type 1 muscle fibers that may occur in a number of neurological disorders.[1] It has a relatively good outcome and follows a stable course.[2] While the exact genetics is unclear, there is an association with mutations in the genes TPM3, ACTA1 and SEPN1.[3] It is a rare condition.[4]
![](../I/m/Fasertypendysproportion.jpg)
Histopathology of congental muscle fibre dysproportion showing predominance of type 1 fibres which appear to be atrophic (yellow arrows) and few type 2 fibres. ATPase staining (pH 4) of a muscle biopsy.
History
The condition was named by M. H. Brooke in 1973.[1]
gollark: It *also* works as a socially acceptable way to not do full-time job-y work for a few years, so you *can* learn things™.
gollark: But I expect you can at least get a decent overview of the bits you like most.
gollark: I mean, to be fair, it's likely quite hard to self-teach 3 years of full time stuff.
gollark: The additional spending of the top ones apparently goes on research quite a lot. That doesn't impact teaching quality much in *most* areas, since I don't think that much of your education is going to be in state of the art research. Maybe the last year.
gollark: Prestigious is the more accurate word I guess.
References
- Clarke NF, North KN (October 2003). "Congenital fiber type dispropsortion—30 years on". J. Neuropathol. Exp. Neurol. 62 (10): 977–89. doi:10.1093/jnen/62.10.977. PMID 14575234.
- Na SJ, Kim WK, Kim TS, Kang SW, Lee EY, Choi YC (August 2006). "Comparison of clinical characteristics between congenital fiber type disproportion myopathy and congenital myopathy with type 1 fiber predominance". Yonsei Med. J. 47 (4): 513–8. doi:10.3349/ymj.2006.47.4.513. PMC 2687732. PMID 16941741.
- Clarke NF, Kolski H, Dye DE, et al. (March 2008). "Mutations in TPM3 are a common cause of congenital fiber type disproportion". Ann. Neurol. 63 (3): 329–37. doi:10.1002/ana.21308. PMID 18300303.
- Sharma MC, Ralte AM, Atri SK, Gulati S, Kalra V, Sarkar C (June 2004). "Congenital fiber type disproportion: a rare type of congenital myopathy: a report of four cases". Neurol India. 52 (2): 254–6. PMID 15269486.
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