Oculopharyngodistal myopathy is genetically heterogeneous and most cases are distinct from oculopharyngeal muscular dystrophy-Reference-Cited by-同舟云学术

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Oculopharyngodistal myopathy is genetically heterogeneous and most cases are distinct from oculopharyngeal muscular dystrophy

Published:2001-11 Issue:8 Volume:11 Page:699-702
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Minami Narihiro,Ikezoe Koji,Kuroda Hirotaka,Nakabayashi Haruo,Satoyoshi Eijiro,Nonaka Ikuya

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference11 articles.

1. Oculopharyngeal muscular dystrophy;Tomé,1994

2. Oculopharyngeal muscular dystrophy in two unrelated Japanese families;Uyama;Neurology,1996

3. The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac α and β myosin heavy chain genes on chromosome 14q11.2–q13;Brais;Hum Mol Genet,1995

4. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy;Brais;Nat Genet,1998

5. Oculopharyngodistal myopathy: report of four families;Satoyoshi;Arch Neurol,1977

Cited by 38 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Non-coding CGG repeat expansion inLOC642361/NUTM2B-AS1is associated with a phenotype of oculopharyngodistal myopathy;Journal of Medical Genetics;2023-11-03

2. Intrafamilial phenotypic heterogeneity in GIPC1-related oculopharyngodistal myopathy type 2: a case report;Neuromuscular Disorders;2023-09

3. Characteristics of the muscle involvement along the disease progression in a large cohort of oculopharyngodistal myopathy compared to oculopharyngeal muscular dystrophy;Journal of Neurology;2023-08-27

4. Recent advances in CGG repeat diseases and a proposal of fragile X-associated tremor/ataxia syndrome, neuronal intranuclear inclusion disease, and oculophryngodistal myopathy (FNOP) spectrum disorder;Journal of Human Genetics;2023-01-20

5. Oculopharyngeal Muscular Dystrophy;Current Clinical Neurology;2023

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