Condition: Left ventricular noncompaction cardiomyopathy


rs114638163 in MIPEP gene and Left ventricular noncompaction cardiomyopathy PMID 27799064 2016 MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.

rs397516248 in MYH7;MHRT gene and Left ventricular noncompaction cardiomyopathy PMID 19477645 2009 165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands.

PMID 24664454 2014 Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.