Condition: Emery-Dreifuss Muscular Dystrophy 3
rs199474724 in
LMNA gene and
Emery-Dreifuss Muscular Dystrophy 3
PMID 27234031 2017 Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.
PMID 22431096 2012 Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing.