Condition: Emery-Dreifuss Muscular Dystrophy 4
rs1564367104
in
SYNE1
gene and
Emery-Dreifuss Muscular Dystrophy 4
PMID 23959263
2013 SYNE1 mutations in autosomal recessive cerebellar ataxia.
PMID 17159980
2007 Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia.