Oculopharyngeal muscular dystrophy

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Oculopharyngeal muscular dystrophy
Classification and external resources
ICD-10 G71.0
ICD-9 359.1
OMIM 164300
DiseasesDB 29869
MeSH D039141

Oculopharyngeal dystrophy (OPD), or oculopharyngeal muscular dystrophy, is a form of muscular dystrophy characterized in some stages by deformation of the eyelid, speech impediment, and difficulty swallowing due to dystrophia of the pharynx.

There is some evidence associating it with PABPN1.[1]

[edit] References

  1. ^ Goh KJ, Wong KT, Nishino I, Minami N, Nonaka I (2005). "Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian woman". Neuromuscul. Disord. 15 (3): 262–4. doi:10.1016/j.nmd.2004.10.016. PMID 15725589. 

[edit] External links

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