title: [Preferential distal muscle involvement in case of oculopharyngeal muscular dystrophy with (GCG) 13 expansion].
abstract: We reported a 52-year-old woman with oculopharyngeal muscular dystrophy (OPMD) harboring expanded (GCG) 13 mutation of the poly (A) binding protein 2 gene. She presented not only ptosis and dysphagia but distal dominant muscle atrophy in four extremities. CT demonstrated distal muscle atrophy with marked fat replacement in the biceps femoris, semitendinosus, membraneous, soleus, and gastrocnemius muscles. Although OPMD is considered to be a muscle disease, this patient showed even neurogenic features in the electrophysiological and pathological findings. Although previous reports indicate that OPMD is genetically homogeneous disease, some cases with OPMD may show some atypical features associated with neurogenic involvement.
authors.affiliation: First Department of Internal Medicine, Osaka Medical College.
authors.forename: Dainari
authors.initials: D
authors.lastname: Nakashima
authors.forename: Hideto
authors.initials: H
authors.lastname: Nakajima
authors.forename: Shimon
authors.initials: S
authors.lastname: Ishida
authors.forename: Masakazu
authors.initials: M
authors.lastname: Sugino
authors.forename: Fumiharu
authors.initials: F
authors.lastname: Kimura
authors.forename: Toshiaki
authors.initials: T
authors.lastname: Hanafusa
mesh_terms: D004576:Electromyography; D005260:Female; D006801:Humans; D008875:Middle Aged; D009133:Muscular Atrophy / Q000150:complications* / Q000503:physiopathology; D039141:Muscular Dystrophy, Oculopharyngeal / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D039103:Poly(A)-Binding Protein II / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion
chemical_list: D039103:Poly(A)-Binding Protein II