Neurogenic involvement in a case of oculopharyngeal muscular dystrophy
- 19 December 2001
- journal article
- case report
- Published by Wiley in Muscle & Nerve
- Vol. 25 (1) , 98-101
- https://doi.org/10.1002/mus.1213
Abstract
We report the case of a 65‐year‐old man with a 15‐year history of oculopharyngeal muscular dystrophy (OPMD) harboring a (GCG)11 mutation of the poly(A)‐binding protein 2 (PABP2) gene. He developed, early in the course of the disease, a severe chronic axonal neuropathy. Although the primary myopathic origin of the disease appears to be established, a small number of cases of OPMD with neuropathic features have been described. This case raises the question of a possible neurogenic component to this disease and the role of the length of the mutation in phenotype severity. © 2002 John Wiley & Sons, Inc. Muscle Nerve 25: 98–101, 2002Keywords
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