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.