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Related Concept Videos

Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

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Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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Related Experiment Video

Updated: Aug 31, 2025

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
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A Novel Dynamin 2 Mutation Causing Dominant Intermediate Charcot-Marie-Tooth Neuropathy: Case Report.

Carmela V San Luis1, Coreen Schwartzlow1, Kenkichi Nozaki1

  • 1The University of Alabama at Birmingham, USA.

Journal of Investigative Medicine High Impact Case Reports
|August 22, 2022
PubMed
Summary
This summary is machine-generated.

A novel Dynamin 2 mutation causes Charcot-Marie-Tooth neuropathy. This finding highlights the importance of genetic testing for inherited neuropathies and expands the known mutations linked to this condition.

Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Dynamin 2 mutations are linked to Charcot-Marie-Tooth neuropathy (CMT).
Keywords:
Charcot-Marie-Tooth neuropathyDynamin 2case reportfamilial genetic studiespathogenic gene mutations

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  • Understanding the genetic basis of CMT is crucial for diagnosis and treatment.
  • Identifying novel mutations expands the known spectrum of CMT-associated genes.