Periodic Paralysis with Later-Onset Distal Motor Neuropathy

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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Periodic Paralysis with Later-Onset Distal Motor Neuropathy is related to isolated atp synthase deficiency and neuropathy, ataxia, and retinitis pigmentosa. An important gene associated with Periodic Paralysis with Later-Onset Distal Motor Neuropathy is MT-ATP6 (Mitochondrially Encoded ATP Synthase Membrane Subunit 6), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Organelle biogenesis and maintenance.
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Mit
Adolescent
<1/1000000
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Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
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Publications
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References Literature

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IF
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