Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts

Keyphrases

• Membrane Protein 100%
• MLC1 100%
• Megalencephalic Leukoencephalopathy with Subcortical Cysts 100%
• Transmembrane Domain 66%
• One Family 66%
• Spasticity 33%
• Motor Function 33%
• Amino Acid Substitution 33%
• Cardiac Magnetic Resonance Imaging (cMRI) 33%
• Stop Codon 33%
• Microsatellite Markers 33%
• Compound Heterozygous mutation 33%
• Two-point 33%
• Autosomal Recessive 33%
• Genetic Heterogeneity 33%
• Frameshift 33%
• White Matter Abnormalities 33%
• Linkage Analysis 33%
• LOD Score 33%
• Ataxia 33%
• Macrocephaly 33%
• Subcortical Cysts 33%
• Recombination Fraction 33%
• Splice Acceptor 33%
• Splice Donor 33%
• Mental Decline 33%

Biochemistry, Genetics and Molecular Biology

• Membrane Protein 100%
• MLC1 100%
• Transmembrane Domain 66%
• Chromosome 66%
• Magnetic Resonance Imaging 33%
• Candidate Gene 33%
• Gene Linkage 33%
• Genetic Heterogeneity 33%
• Autosomal Recessive Disorder 33%
• Linkage Analysis 33%
• Motor Performance 33%
• Amino Acid Substitution 33%
• Stop Codon 33%
• Microsatellite Marker 33%
• Genetic Recombination 33%

Neuroscience

• Megalencephalic Leukoencephalopathy with Subcortical Cysts 100%
• Chromosome 100%
• Magnetic Resonance Imaging 50%
• Microsatellite 50%
• Amino Acid Substitution 50%
• Autosomal Recessive Disorder 50%
• Ataxia 50%
• Macrocephaly 50%
• Stop Codon 50%
• Genetic Recombination 50%