keywords Alleles Exons/genetics Gene Expression/genetics Genes, Overlapping/genetics Genetic Complementation Test/methods Genetic Counseling Genetic Diseases, X-Linked/genetics Microfilament Proteins/genetics Molecular Biology/*methods Myotonic Dystrophy/genetics Myotonin-Protein Kinase Nerve Tissue Proteins/genetics Point Mutation/genetics Protein-Serine-Threonine Kinases/genetics RNA, Long Noncoding RNA, Untranslated Spinocerebellar Ataxias/diagnosis/genetics Transcription, Genetic/genetics Trinucleotide Repeat Expansion/genetics