Podcast
Questions and Answers
What is the role of the Myotonic Dystrophy Protein Kinase enzyme?
What is the role of the Myotonic Dystrophy Protein Kinase enzyme?
- Regulation of cell growth
- Maintenance of skin pigmentation
- Inhibition of myosin phosphatase (correct)
- Control of cardiac rhythm
What is the characteristic of the congenital form of Myotonic Dystrophy?
What is the characteristic of the congenital form of Myotonic Dystrophy?
- Testicular atrophy in males
- Muscle weakness
- Cardiac arrhythmias
- Open triangle shape (correct)
What is the location of the NF1 gene?
What is the location of the NF1 gene?
- Short arm of chromosome 3
- Long arm of chromosome 3
- Long arm of chromosome 17 (correct)
- Short arm of chromosome 17
What is the protein produced by the NF1 gene?
What is the protein produced by the NF1 gene?
What is the characteristic skin feature of Neurofibromatosis I?
What is the characteristic skin feature of Neurofibromatosis I?
What type of mutation is associated with Myotonic Dystrophy?
What type of mutation is associated with Myotonic Dystrophy?
What is the characteristic of an autosomal recessive gene?
What is the characteristic of an autosomal recessive gene?
What is the main characteristic of achondroplasia?
What is the main characteristic of achondroplasia?
What is the defective gene in achondroplasia?
What is the defective gene in achondroplasia?
What is the clinical feature of achondroplasia?
What is the clinical feature of achondroplasia?
What is the treatment option for achondroplasia?
What is the treatment option for achondroplasia?
What is the clinical feature of hypercholesterolemia?
What is the clinical feature of hypercholesterolemia?
What is the gene defect associated with Sonic hedgehog gene defects?
What is the gene defect associated with Sonic hedgehog gene defects?
In HUNTINGTON DISEASE, what type of abnormalities is commonly observed?
In HUNTINGTON DISEASE, what type of abnormalities is commonly observed?
What is the role of Sonic Hedgehog protein in embryonic development?
What is the role of Sonic Hedgehog protein in embryonic development?
What specific brain abnormality is commonly seen in individuals with HOLOPROSENCEPHALY?
What specific brain abnormality is commonly seen in individuals with HOLOPROSENCEPHALY?
What is the significance of the CAG Trinucleotide Repeats in Huntington's Disease?
What is the significance of the CAG Trinucleotide Repeats in Huntington's Disease?
What is the main clinical feature of Huntington's Disease that manifests in 90% of patients?
What is the main clinical feature of Huntington's Disease that manifests in 90% of patients?
What is the role of Fibrillin 1 in the body?
What is the role of Fibrillin 1 in the body?
Which gene defect is associated with Marfan Syndrome?
Which gene defect is associated with Marfan Syndrome?
What is a common clinical feature of Marfan Syndrome related to the heart?
What is a common clinical feature of Marfan Syndrome related to the heart?
Which system of the body is NOT affected by Marfan Syndrome according to the text?
Which system of the body is NOT affected by Marfan Syndrome according to the text?
What is the frequent cause of death in individuals with Marfan Syndrome?
What is the frequent cause of death in individuals with Marfan Syndrome?
Which condition primarily affects muscles and body systems starting in adulthood?
Which condition primarily affects muscles and body systems starting in adulthood?
What is the primary genetic defect that leads to Gaucher's disease?
What is the primary genetic defect that leads to Gaucher's disease?
What is the primary outcome of the genetic defect that leads to Gaucher's disease?
What is the primary outcome of the genetic defect that leads to Gaucher's disease?
What is the primary clinical feature of Gaucher's disease?
What is the primary clinical feature of Gaucher's disease?
What is the primary genetic defect that leads to hemochromatosis?
What is the primary genetic defect that leads to hemochromatosis?
What is the primary outcome of the genetic defect that leads to hemochromatosis?
What is the primary outcome of the genetic defect that leads to hemochromatosis?
What is the most common manifestation of untreated hemochromatosis?
What is the most common manifestation of untreated hemochromatosis?
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