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Autosomal recessive oculopharyngodistal myopathy in light of distal myopathy with rimmed vacuoles and oculopharyngeal muscular dystrophy.
Uyama, E; Uchino, M; Chateau, D; Tomé, F M.
Affiliation
  • Uyama E; Department of Neurology, Kumamoto University School of Medicine, Japan. uyama@kaiju.medic.kumamoto-u.ac.jp
Neuromuscul Disord ; 8(2): 119-25, 1998 Apr.
Article in En | MEDLINE | ID: mdl-9608566
We investigated two Japanese siblings presenting with oculopharyngodistal myopathy, whose healthy parents were consanguineous. To clarify their disease characteristics, we compared them with four patients with distal myopathy with rimmed vacuoles linked to chromosome 9p1-q1, and 36 patients with oculopharyngeal muscular dystrophy linked to 14q11.2-q13. The first symptom in the patients with autosomal recessive oculopharyngodistal myopathy was weakness of the tibialis anterior muscle. Their biceps muscles showed initial and advanced myogenic changes, with rimmed vacuoles in 3% and 6% of the muscle fibers, respectively. In contrast, patients with distal myopathy with rimmed vacuoles revealed many rimmed vacuoles, on average in 20% of the fibers, and their oculopharyngeal muscles were spared. None of the patients with oculopharyngeal muscular dystrophy showed distal dominant weakness and the occurrence of rimmed vacuoles was rare. Ultrastructural studies in groups of autosomal recessive oculopharyngodistal myopathy and distal myopathy with rimmed vacuoles disclosed a collection of cytoplasmic filaments of 16-18 nm, but oculopharyngeal muscular dystrophy-specific intranuclear inclusions of 8.5 nm were not found. Thus, the phenotype of autosomal recessive oculopharyngodistal myopathy is distinct from distal myopathy with rimmed vacuoles and oculopharyngeal muscular dystrophy, but shares some ultrastructural characteristics with distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy.
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Collection: 01-internacional Database: MEDLINE Main subject: Pharyngeal Muscles / Vacuoles / Genes, Recessive / Muscular Diseases / Oculomotor Muscles Type of study: Diagnostic_studies Limits: Humans / Male / Middle aged Country/Region as subject: Asia Language: En Journal: Neuromuscul Disord Journal subject: NEUROLOGIA Year: 1998 Document type: Article Affiliation country: Japan Country of publication: United kingdom
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Collection: 01-internacional Database: MEDLINE Main subject: Pharyngeal Muscles / Vacuoles / Genes, Recessive / Muscular Diseases / Oculomotor Muscles Type of study: Diagnostic_studies Limits: Humans / Male / Middle aged Country/Region as subject: Asia Language: En Journal: Neuromuscul Disord Journal subject: NEUROLOGIA Year: 1998 Document type: Article Affiliation country: Japan Country of publication: United kingdom