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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8641232
Species: Homo sapiens
RGD Object: Variant
Symbol: CV100216
Name: NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=)
Acc ID: DOID:0070198
Term: Miyoshi muscular dystrophy
Definition: A distal myopathy that is characterized by autosomal recessive inheritance of distal muscle weakness in the upper and lower limbs that spares the intrinsic muscles of the hands and has onset in young adulthood. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/3942856 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
CV100216 IAGP 8554872ClinVarClinVar Annotator: match by term: Muscular dystrophy, distal, late onset, autosomal recessivePMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532
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