Distal muscular dystrophy (or distal myopathy) is a group of disorders characterized by onset in the hands or feet.
Many types involve dysferlin, but it has been suggested that not all cases do.[1]
Types include:
| Name | OMIM | Locus |
| Miyoshi myopathy (in Japan)[2] | 254130 | DYSF at 2p13.3-p13.1 |
| Distal myopathy with anterior tibial onset | 606768 | DYSF at 2p13.3-p13.1 |
| Welander distal myopathy | 604454 | ? at 2p13[3] |
DYSF is also associated with Limb-Girdle muscular dystrophy type 2B.[4]
[edit] See also
[edit] References
- ^ Murakami N, Sakuta R, Takahashi E, et al. (December 2005). "Early onset distal muscular dystrophy with normal dysferlin expression". Brain Dev. 27 (8): 589–91. doi:10.1016/j.braindev.2005.02.002. PMID 16310593. http://linkinghub.elsevier.com/retrieve/pii/S0387-7604(05)00034-3.
- ^ Soares CN, de Freitas MR, Nascimento OJ, da Silva LF, de Freitas AR, Werneck LC (December 2003). "Myopathy of distal lower limbs: the clinical variant of Miyoshi". Arq Neuropsiquiatr 61 (4): 946–9. PMID 14762596. http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2003000600011&lng=en&nrm=iso&tlng=en.
- ^ von Tell D, Bruder CE, Anderson LV, Anvret M, Ahlberg G (August 2003). "Refined mapping of the Welander distal myopathy region on chromosome 2p13 positions the new candidate region telomeric of the DYSF locus". Neurogenetics 4 (4): 173–7. doi:10.1007/s10048-003-0154-z. PMID 12836053. http://dx.doi.org/10.1007/s10048-003-0154-z.
- ^ Illa I (March 2000). "Distal myopathies". J. Neurol. 247 (3): 169–74. PMID 10787109. http://link.springer.de/link/service/journals/00415/bibs/0247003/02470169.htm.
[edit] External links
| Muscular Dystrophy | | | The Nine Primary Muscular Dystrophies | | | | Related topics | | | National/International Organizations | | | | US government Institutes and Legislation | | | | National/International Events | | | | Recent or Ongoing Clinical Trials | | |
