Type 2B2 Charcot-Marie-Tooth disease

Also Known As:

Charcot-Marie-Tooth disease, Type 2B2; ARCMT2B; CMT 2B2; CMT2B2; Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type B2; Charcot-Marie-Tooth Neuropathy, Type 2B2; Charcot-Marie-Tooth disease, axonal, Type 2B2; Charcot-Marie-Tooth disease, axonal, autosomal recessive, B2; Charcot-Marie-Tooth disease, neuronal, Type 2B2

Networked: 4 relevant articles (0 outcomes, 2 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy)
2.	Seizures (Absence Seizure)
3.	Peripheral Nervous System Diseases (PNS Diseases)
4.	Microcephaly
5.	Ataxia (Dyssynergia)

Experts

1.	Leal, Alejandro: 4 articles (01/2020 - 10/2009)
2.	Berghoff, Corinna: 3 articles (12/2018 - 10/2009)
3.	Berghoff, Martin: 3 articles (12/2018 - 10/2009)
4.	Meisterernst, Michael: 3 articles (12/2018 - 10/2009)
5.	Morera, Bernal: 3 articles (12/2018 - 10/2009)
6.	Reis, André: 3 articles (12/2018 - 10/2009)
7.	Sticht, Heinrich: 3 articles (12/2018 - 10/2009)
8.	Barrantes, Ramiro: 2 articles (10/2009 - 10/2009)
9.	Bauer, Finn: 2 articles (10/2009 - 10/2009)
10.	Berger, Philipp: 2 articles (10/2009 - 10/2009)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Type 2B2 Charcot-Marie-Tooth disease:

1.	RNA (Ribonucleic Acid)IBA 10/01/2009 - "Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models." 10/01/2009 - "Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models."
2.	Polynucleotide 5'-Hydroxyl-Kinase (Kinase, Polynucleotide)IBA 12/01/2018 - "The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25." 01/01/2020 - "Hereditary mutations in polynucleotide kinase-phosphatase (PNKP) result in a spectrum of neurological pathologies ranging from neurodevelopmental dysfunction in microcephaly with early onset seizures (MCSZ) to neurodegeneration in ataxia oculomotor apraxia-4 (AOA4) and Charcot-Marie-Tooth disease (CMT2B2). "
3.	Proteins (Proteins, Gene)FDA Link 10/01/2009 - "These results suggest a potential role of this protein in the molecular etiology of CMT2B2 and suggest a potential, more general role of MED25 in gene dosage sensitive peripheral neuropathy pathogenesis."
4.	Phosphoric Monoester Hydrolases (Phosphatases)IBA 01/01/2020 - "Hereditary mutations in polynucleotide kinase-phosphatase (PNKP) result in a spectrum of neurological pathologies ranging from neurodevelopmental dysfunction in microcephaly with early onset seizures (MCSZ) to neurodegeneration in ataxia oculomotor apraxia-4 (AOA4) and Charcot-Marie-Tooth disease (CMT2B2). "