Oculopharyngodistal myopathy

Definition:

Oculopharyngodistal myopathy (OPDM) is an adult-onset inherited neuromuscular disorder characterized by progressive ptosis, external ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and distal limb muscles. Noncoding CGG repeat expansion in LRP12 has been identified in patients. It has also been reported that expansion of GGC repeat in GIPC1 is associated with OPDM.

References:

[1]. Jianwen Deng, et al. Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy. Am J Hum Genet. 2020 Jun 4;106(6):793-804. [Content Brief]

[2]. Jiaxi Yu, et al. The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4. Am J Hum Genet. 2022 Mar 3;109(3):533-541. [Content Brief]

[3]. Masashi Ogasawara, et al. CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations. Acta Neuropathol Commun. 2020 Nov 25;8(1):204. [Content Brief]

[4]. Rie Saito, et al. Oculopharyngodistal myopathy with coexisting histology of systemic neuronal intranuclear inclusion disease: Clinicopathologic features of an autopsied patient harboring CGG repeat expansions in LRP12. Acta Neuropathol Commun. 2020 Jun 3;8(1):75. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.