Open AccessMuscular myopathies other than myotonic dystrophy also associated with (CTG)nexpansion at the DMPK locus
Author(s) -
Vasavi Mohan,
Y. R. Ahuja,
Qurratulain Hasan
Publication year - 2012
Publication title -
journal of pediatric neurosciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.247
H-Index - 18
eISSN - 1998-3948
pISSN - 1817-1745
DOI - 10.4103/1817-1745.106471
Subject(s) - myotonic dystrophy , hypotonia , trinucleotide repeat expansion , muscular dystrophy , medicine , genetics , myopathy , myotonia , locus (genetics) , population , gene , biology , allele , environmental health
Assess triplet repeat expansion (CTG)n at the 'dystrophia-myotonica protein kinase' (DMPK) locus in muscular myopathies to elucidate its role in myopathic symptoms and enable genetic counseling and prenatal diagnosis in families.