Limb-Girdle Muscular Dystrophy and Distal Myopathy
STR: OPDM1
NM_013437.5:c.-102CGG[X]
RNA-mediated toxicity is thought to be the mechanism of disease. Sixty-five Japanese patients with oculopharyngodistal myopathy (OPDM) from 59 families with CGG repeat expansions in LRP12. This represents the most common OPDM subtype among all patients in Japan with genetically diagnosed OPDM.
Normal: 13 to 45 repeats.
Pathogenic: 85 to 289 repeats.
Sources: Expert listCreated: 7 Jun 2023, 5:46 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Oculopharyngodistal myopathy 1 MIM#164310
Publications
Clinically RelevantInterruptions in the repeated sequence are reported as part of standard diagnostic practise
Str: opdm1 has been classified as Green List (High Evidence).
Str: opdm1 has been classified as Green List (High Evidence).
STR: OPDM1 was added STR: OPDM1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Expert list Mode of inheritance for STR: OPDM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: OPDM1 were set to 31332380; 34047774 Phenotypes for STR: OPDM1 were set to Oculopharyngodistal myopathy 1 MIM#164310 Review for STR: OPDM1 was set to GREEN STR: OPDM1 was marked as clinically relevant