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73 Possible Causes for Phenotypically Similar Autosomal Dominant Form

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  • Cardiomyopathy

    Sick sinus syndrome is phenotypically similar to progressive cardiac conduction defect.[web.archive.org] Familial occurrence of both syndromes has been reported with an autosomal dominant pattern of inheritance.[web.archive.org] An ion channelopathy, in the form of SCN5A mutations, is thought to contribute to these conduction system defects.[web.archive.org]

  • Congenital Deafness

    TECTA (DFNA8/12) It is interesting to note that another component of the tectorial membrane, tectorin, causes a form of autosomal dominant deafness with a similar phenotype[bmb.oxfordjournals.org]

  • Progressive Myoclonic Epilepsy Type 3

    […] of specific forms of PME is challenging because of genetic heterogeneity, phenotypic similarities, and an overlap of symptoms with other epileptic and neurodegenerative diseases[thieme-connect.com] Most molecularly characterized PMEs are inherited in an autosomal recessive manner, but rare cases show autosomal dominant or mitochondrial inheritance.[ 2 ] [ 3 ] The diagnosis[thieme-connect.com]

  • Congenital Dyserythropoietic Anemia

    Preliminary results indicate genetic and phenotypic similarities between a Swedish and an American family, both with an autosomally dominant inherited form of CDA-III.[ncbi.nlm.nih.gov] It is possible that the genetic lesion is identical in these families, but the different phenotypes and modes of inheritance reported among some other cases of CDA-III are[ncbi.nlm.nih.gov]

  • Migraine Equivalent

    The 2 forms are phenotypically similar subtypes of migraine with aura, differentiated only by the unilateral motor symptoms. [19, 20] Familial hemiplegic migraine FHM is a[emedicine.medscape.com] […] genetically heterogeneous autosomal dominant disorder and a channelopathy; most of the affected families (FHM1) bear mutations in the CACNA1A gene (a defect linked to abnormal[emedicine.medscape.com]

  • Classic Migraine

    The 2 forms are phenotypically similar subtypes of migraine with aura, differentiated only by the unilateral motor symptoms. [19, 20] Familial hemiplegic migraine FHM is a[emedicine.medscape.com] […] genetically heterogeneous autosomal dominant disorder and a channelopathy; most of the affected families (FHM1) bear mutations in the CACNA1A gene (a defect linked to abnormal[emedicine.medscape.com]

  • Basilar Migraine

    The 2 forms are phenotypically similar subtypes of migraine with aura, differentiated only by the unilateral motor symptoms. [19, 20] Familial hemiplegic migraine FHM is a[emedicine.medscape.com] […] genetically heterogeneous autosomal dominant disorder and a channelopathy; most of the affected families (FHM1) bear mutations in the CACNA1A gene (a defect linked to abnormal[emedicine.medscape.com]

  • Familial Short QT Syndrome

    Sick sinus syndrome is phenotypically similar to progressive cardiac conduction defect.[circ.ahajournals.org] Familial occurrence of both syndromes has been reported with an autosomal dominant pattern of inheritance.[circ.ahajournals.org] An ion channelopathy, in the form of SCN5A mutations, is thought to contribute to these conduction system defects.[circ.ahajournals.org]

  • Paraparesis

    Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified.[medvik.cz] Definice A group of inherited diseases that share similar phenotypes but are genetically diverse.[medvik.cz]

  • Left Ventricular Noncompaction

    Sick sinus syndrome is phenotypically similar to progressive cardiac conduction defect.[doi.org] Familial occurrence of both syndromes has been reported with an autosomal dominant pattern of inheritance.[doi.org] An ion channelopathy, in the form of SCN5A mutations, is thought to contribute to these conduction system defects.[doi.org]

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