chromosome
gene symbol
phenotype
Restrictive cardiomyopathy, 2 -RCM2calcium channel, voltage-dependent, beta 2 subunit
brugada syndrome 4 -Arrhythmogenic right ventricular dysplasia, familial, 6 -ARVD6Arrhythmogenic right ventricular cardiomyopathy 6 -ARVC6choline acetyltransferase isoform
Myasthenia gravis, familial infantile, 2 -FIMG2Myasthenia gravis, familial infantile -FIMGMyasthenia gravis, autosomal recessive -MGICongenital myasthenic syndrome with choline acetyltransferase deficiency -CMS-EAphytanoyl-CoA 2-hydroxylase
refsum disease, adult -RDearly growth response 2 protein
Dejerine-Sottas neuropathy -DSNNeuropathy, congenital hypomyelinating -CHNCharcot-Marie-Tooth neuropathy Type 4E -CMT4ECharcot-Marie-Tooth disease, type 1D -CMT1Dmyopalladin
LIM domain binding 3
cardiomyopathy, dilated 1C -CMD1Cmyofibrillar myopathy ZASP-related -MFMZCharcot-Marie-Tooth neuropathy Type 4G -CMT4GCardiomyopathy, dilated, 1C -CMD1CAtrial fibrillation, 2 -ATFB2Spastic paraplegia 27 -SPG27vinculin
Metavinculin, included -VCLCardiomyopathy, dilated, 1W -CMD1WArrhythmogenic right ventricular dysplasia , 7 -ARVD7Neuropathy, motor and sensory, Russe type -NMSRNeuropathy motor and sensory neuropathy, Russe type -HMSNRSpastic paraplegia 9 -SPG9twinkle/twinky (mt DNA helicase)
Spinocerebellar ataxia, infantile-onset, with sensory neuropathy -IOSCAprogressive external ophthalmoplegia with mitochondrial dna deletions, autosomal -PEO3Aankyrin repeat domain 1 (cardiac muscle)
COX15 homolog, cytochrome c oxidase assembly protein (yeast)
Cardiomyopathy, hypertrophic, early-onset fatal -charcot-marie-tooth neuropathy, dominant intermediate a -CMTDIAprotrudin
Spastic paraplegia 33 -SPG33BCL2-associated athanogene 3
myofibrillar myopathy with bag3 defect -RNA binding motif protein 20