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:
Gene:
Variant:
Reference:
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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