No abstract available
Keywords:
SGCE; dystonia; imprinting; myoclonus; nonsense-mediated mRNA decay.
MeSH terms
-
Child, Preschool
-
Codon, Nonsense*
-
Dystonic Disorders / diagnosis
-
Dystonic Disorders / genetics*
-
Female
-
Genetic Markers
-
Humans
-
Japan
-
Male
-
Sarcoglycans / genetics*
Substances
-
Codon, Nonsense
-
Genetic Markers
-
SGCE protein, human
-
Sarcoglycans