Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype

Genotype-phenotype correlation in L1 associated diseases.

The neural cell adhesion molecule L1 (L1CAM) plays a key role during embryonic development of the nervous system and is involved in memory and learning. Mutations in the L1 gene are responsible for four X linked neurological conditions: X linked hydrocephalus (HSAS), MASA syndrome, complicated spastic paraplegia type 1 (SP-1), and X linked agenesis of the corpus callosum. As the clinical pictur...

Chromosome Duplication (14q) and The Genotype Phenotype Correlation

Mitochondrial DNA (mtDNA)

Introduction: The Mitochondrion and Its Genome ............................................................ 1 The Human Mitochondrial Genome ................................................................................... 3 The D-loop and Human Population Genetics ..................................................................... 4 Mitochondrial DNA and Recent Human History .................

RAMEDIS - Rare Metabolic Diseases Publishing Tool for Genotype-Phenotype Correlation

To gain further knowledge about rare genetic diseases, a world wide method for data collection via the Internet has been established. This new approach will improve collecting valuable data from single case reports. RAMEDIS saves standardised patient data which will be usable for statistics, longitudinal examinations and co-operative studies in future time. Embedded in the scene of the German H...

TBC1D24 genotype–phenotype correlation

OBJECTIVE To evaluate the phenotypic spectrum associated with mutations in TBC1D24. METHODS We acquired new clinical, EEG, and neuroimaging data of 11 previously unreported and 37 published patients. TBC1D24 mutations, identified through various sequencing methods, can be found online (http://lovd.nl/TBC1D24). RESULTS Forty-eight patients were included (28 men, 20 women, average age 21 year...