Disorder "Myotonic Dystrophy Type 1"
Found 3 records
Disorder information
Disorder name:
Myotonic Dystrophy Type 1
Disoder ID:
OMIM entry:
Synonyms:
Dystrophia myotonica, congenital myotonic dystrophy, Steinert disease, myotonic dystrophy of Steinert
Definition:
A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region.
Modifier statisitcs
Record:
3
Gene:
1
Variant:
3
Reference:
1
Effect type:
Expressivity(3)
Modifier effect:
Altered severity(3)
Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
---|---|---|---|---|---|---|
MBNL1 | MBNL1:c.-795C>T | Expressivity | Altered severity | P=0.020 | The association of several genetic variants of the MBNL1 gene with DM1 or with the severity of the disease.more | more |
MBNL1:n.*1846T>C | Expressivity | Altered severity | P=0.037 | The association of several genetic variants of the MBNL1 gene with DM1 or with the severity of the disease.more | more | |
MBNL1:n.151973954T>A | Expressivity | Altered severity | P=0.0034 | The association of several genetic variants of the MBNL1 gene with DM1 or with the severity of the disease.more | more |
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