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Familial isolated dilated cardiomyopathy
- ... of the condition in these individuals is unknown.Familial dilated cardiomyopathy is described as nonsyndromic or isolated because it typically affects only the heart. However, ...
- ... CAV3-related distal myopathy, limb-girdle muscular dystrophy, isolated ... within the same family.Some people with rippling muscle disease do not ...
- ... including limb-girdle muscular dystrophy, rippling muscle disease, isolated hyperCKemia, and a heart disorder ... This condition is inherited in an autosomal ...
- ... kinase that characterize this condition.In addition to isolated hyperCKemia, CAV3 gene mutations can ... This condition is inherited in an autosomal ...
- ... their sons. Fetal myocardium Honeycomb myocardium Hypertrabeculation syndrome Isolated noncompaction of the ventricular myocardium Left ventricular hypertrabeculation Left ventricular myocardial noncompaction cardiomyopathy Left ventricular non-compaction LVHT LVNC Non-compaction ...
- ... dehydrogenase 9 deficiency Deficiency of acyl-CoA dehydrogenase family member 9 Mitochondrial complex I deficiency due to ACAD9 deficiency Genetic Testing Registry: Acyl-CoA dehydrogenase 9 deficiency Isolated complex I deficiency National Organization for Rare Disorders ( ...
- ... disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their children. Isolated CoQ-cytochrome c reductase deficiency Ubiquinone-cytochrome c ...
- ... disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with ... ATP synthase deficiency National Organization for Rare Disorders ( ...
- ... affected individuals, even among those in the same family. People who are mildly ... cardiomyopathy). Another possible feature of this condition is an ...
- ... Other variants in the CACNA1C gene can cause isolated features of Timothy syndrome without the other associated ... is no history of the disorder in their family. Because of the severity of Timothy syndrome, it ...