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GENATLAS PHENOTYPE

last update : 08-03-2022

Symbol	OPDM4
Location	12q24.31
Name	oculopharyngodistal myopathy 4
Corresponding gene	RILPL1
Main clinical features	progressive ptosis, ophthalmoparesis, facial and masseter weakness, and muscle weakness of the distal limbs serum creatine kinase often increased, and skeletal muscle biopsy typically shows chronic myopathic changes with rimmed vacuoles and filamentous intranuclear inclusions distal-limb muscle weakness observed in OPDM4 developed more slowly than in the other three subtypes (PMID: 3518830)
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

Remark(s)

. heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region (UTR) of the RILPL1 gene (PMID: 3518830)