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GENATLAS PHENOTYPE

last update : 30-03-2022

Symbol	OPDM1
Location	8q22.3
Name	oculopharyngodistal myopathy 1
Corresponding gene	LRP12
Main clinical features	characterized by adult-onset ptosis, external ophthalmoplegia, facial muscle weakness, distal limb muscle weakness and atrophy, and pharyngeal involvement, resulting in dysphagia and dysarthria skeletal muscle biopsy shows myopathic changes with rimmed vacuoles weakness, distal myopathy that especially affects the soleus and gastrocnemius muscles, and rimmed vacuoles in muscle biopsy (PMID: 34047774))
Genetic determination	autosomal dominant
Function/system disorder	eye
	neuromuscular
Type	disease

Remark(s)

CGG repeat expansions in LRP12 were identified (from 85 to 289 repeats) (PMID: 34047774))