Oculopharyngodistal myopathy is genetically heterogeneous and most cases are distinct from oculopharyngeal muscular dystrophy
The question whether oculopharyngodistal myopathy (MIM 164310) is a distinct disease entity or a variant of oculopharyngeal muscular dystrophy (MIM 164300) persists. To answer this question, we examined five patients with the clinical characteristics of oculopharyngodistal myopathy for GCG expansion...
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| Veröffentlicht in: | Neuromuscular disorders : NMD 2001-11, Vol.11 (8), p.699-702 |
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| container_title | Neuromuscular disorders : NMD |
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| creator | Minami, Narihiro Ikezoe, Koji Kuroda, Hirotaka Nakabayashi, Haruo Satoyoshi, Eijiro Nonaka, Ikuya |
| description | The question whether oculopharyngodistal myopathy (MIM 164310) is a distinct disease entity or a variant of oculopharyngeal muscular dystrophy (MIM 164300) persists. To answer this question, we examined five patients with the clinical characteristics of oculopharyngodistal myopathy for GCG expansion in poly(A)-binding protein nuclear 1 gene (previously called poly(A)-binding protein 2), the causative gene defect for oculopharyngeal muscular dystrophy. Only one of our five patients had the significant GCG expansion. Thus, oculopharyngodistal myopathy is a genetically heterogeneous disorder, which includes patients with oculopharyngeal muscular dystrophy but, for the most part, is different genetically from oculopharyngeal muscular dystrophy. |
| doi_str_mv | 10.1016/S0960-8966(01)00227-9 |
| format | Article |
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To answer this question, we examined five patients with the clinical characteristics of oculopharyngodistal myopathy for GCG expansion in poly(A)-binding protein nuclear 1 gene (previously called poly(A)-binding protein 2), the causative gene defect for oculopharyngeal muscular dystrophy. Only one of our five patients had the significant GCG expansion. Thus, oculopharyngodistal myopathy is a genetically heterogeneous disorder, which includes patients with oculopharyngeal muscular dystrophy but, for the most part, is different genetically from oculopharyngeal muscular dystrophy.</description><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Diagnosis, Differential</subject><subject>Female</subject><subject>GCG expansion</subject><subject>Genetic Heterogeneity</subject><subject>Humans</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Muscular Diseases - diagnosis</subject><subject>Muscular Diseases - genetics</subject><subject>Muscular Dystrophies - diagnosis</subject><subject>Muscular Dystrophies - genetics</subject><subject>Oculopharyngeal muscular dystrophy</subject><subject>Oculopharyngodistal myopathy</subject><subject>PABP2 gene</subject><subject>PABPN1 gene</subject><subject>Poly(A)-Binding Proteins</subject><subject>RNA-Binding Proteins - genetics</subject><subject>Trinucleotide Repeat Expansion - genetics</subject><issn>0960-8966</issn><issn>1873-2364</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2001</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkEFP3DAQha2qCBbKT2jlU1UOKePETuJThVALSEgcoGfLa09YV0m8tR2kHPrf6-yuSm-cLI_fe-P3EfKRwVcGrL58BFlD0cq6_gLsAqAsm0K-IyvWNlVRVjV_T1b_JCfkNMZfAEw0dXNMThgTUgjGVuTPg5l6v93oMI_P3rqYdE-H2W912szURfqMIyZndN_PdIMJg18mfopUj5YOPiZqdMR8DUgXvxtNol3wA_X_ReMSO8U80YHaOaaQX-YP5KjTfcTzw3lGfv74_nR9W9w_3NxdX90XhjcyFVJ0eg21rHRbQf54ybluJLOl5CVr153VXACv6kaUUBoroG1BIqw7jVBVgNUZ-bzP3Qb_e8KY1OCiwb7XuyqqyTEtFzwLxV5ogo8xYKe2wQ25gWKgFu5qx10tUBUwteOuZPZ9OiyY1gPaV9cBdBZ82wsw13xxGFQ0DkeD1gU0SVnv3ljxFw6PlYQ</recordid><startdate>20011101</startdate><enddate>20011101</enddate><creator>Minami, Narihiro</creator><creator>Ikezoe, Koji</creator><creator>Kuroda, Hirotaka</creator><creator>Nakabayashi, Haruo</creator><creator>Satoyoshi, Eijiro</creator><creator>Nonaka, Ikuya</creator><general>Elsevier B.V</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20011101</creationdate><title>Oculopharyngodistal myopathy is genetically heterogeneous and most cases are distinct from oculopharyngeal muscular dystrophy</title><author>Minami, Narihiro ; 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To answer this question, we examined five patients with the clinical characteristics of oculopharyngodistal myopathy for GCG expansion in poly(A)-binding protein nuclear 1 gene (previously called poly(A)-binding protein 2), the causative gene defect for oculopharyngeal muscular dystrophy. Only one of our five patients had the significant GCG expansion. Thus, oculopharyngodistal myopathy is a genetically heterogeneous disorder, which includes patients with oculopharyngeal muscular dystrophy but, for the most part, is different genetically from oculopharyngeal muscular dystrophy.</abstract><cop>England</cop><pub>Elsevier B.V</pub><pmid>11595511</pmid><doi>10.1016/S0960-8966(01)00227-9</doi><tpages>4</tpages></addata></record> |
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| source | MEDLINE; ScienceDirect Journals (5 years ago - present) |
| subjects | Aged Aged, 80 and over Diagnosis, Differential Female GCG expansion Genetic Heterogeneity Humans Male Middle Aged Muscular Diseases - diagnosis Muscular Diseases - genetics Muscular Dystrophies - diagnosis Muscular Dystrophies - genetics Oculopharyngeal muscular dystrophy Oculopharyngodistal myopathy PABP2 gene PABPN1 gene Poly(A)-Binding Proteins RNA-Binding Proteins - genetics Trinucleotide Repeat Expansion - genetics |
| title | Oculopharyngodistal myopathy is genetically heterogeneous and most cases are distinct from oculopharyngeal muscular dystrophy |
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