Oculopharyngodistal myopathy with CGG repeat expansions in GIPC1: the first report from southwestern China
Sign Up to like & getrecommendations! Published in 2022 at "Neurological Sciences"
DOI: 10.1007/s10072-022-06005-y
Abstract: Oculopharyngodistal myopathy (OPDM) is a rare adult-onset hereditary muscular disease characterized by slowly progressive ptosis, external ophthalmoplegia and weakness of the facial, pharyngeal and distal limb muscles. Recently, CGG repeat expansion mutations in three genes,… read more here.
Keywords: southwestern china; report; cgg repeat; repeat expansions ... See more keywords
Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy.
Sign Up to like & getrecommendations! Published in 2020 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2020.04.011
Abstract: 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. The myopathological features are presence of rimmed vacuoles (RVs)… read more here.
Keywords: expansion; gipc1; repeat; ggc repeat ... See more keywords
The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4.
Sign Up to like & getrecommendations! Published in 2022 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2022.01.012
Abstract: Recent studies indicate that CGG repeat expansions in LRP12, GIPC1, and NOTCH2NLC are associated with oculopharyngodistal myopathy (OPDM) types 1, 2, and 3, respectively. However, some clinicopathologically confirmed OPDM cases continue to have unknown genetic… read more here.
Keywords: repeat; associated oculopharyngodistal; cgg repeat; repeat expansion ... See more keywords
Neuropathy/intranuclear inclusion bodies in oculopharyngodistal myopathy: A case report
Sign Up to like & getrecommendations! Published in 2021 at "eNeurologicalSci"
DOI: 10.1016/j.ensci.2021.100348
Abstract: Oculopharyngodistal myopathy (OPDM) is a slowly progressive adult-onset muscle disease characterized by ptosis, ophthalmoparesis, dysphagia, and weakness of the facial, masseter, bulbar, and distal limbs muscles [1]. Ishiura et al. revealed that OPDM is caused… read more here.
Keywords: muscle; repeat; intranuclear inclusion; case ... See more keywords
The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3
Sign Up to like & getrecommendations! Published in 2021 at "Brain"
DOI: 10.1093/brain/awab077
Abstract: Oculopharyngodistal myopathy (OPDM) is associated with trinucleotide repeat expansions in LRP12 or GIPC1, but the genetic basis of many cases remains unknown. Yu et al. identify GGC repeat expansions in NOTCH2NLC in Chinese patients with… read more here.
Keywords: repeat expansion; ggc repeat; oculopharyngodistal myopathy;
Intranuclear inclusions in skin biopsies are not limited to neuronal intranuclear inclusion disease but can also be seen in oculopharyngodistal myopathy
Sign Up to like & getrecommendations! Published in 2021 at "Neuropathology and Applied Neurobiology"
DOI: 10.1111/nan.12787
Abstract: Oculopharyngodistal myopathy (OPDM) is caused by the expansion of CGG repeats in NOTCH2NLC (OPDM_NOTCH2NLC) GIPC1 (OPDM_GIPC1), or LRP12 (OPDM_LRP12). Neuronal intranuclear inclusion disease (NIID) is clinically distinct from OPDM but is also caused by the… read more here.
Keywords: inclusion disease; inclusion; intranuclear inclusions; neuronal intranuclear ... See more keywords