Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 2 (MSP2)

Alias:
Multisystem Proteinopathy 2
Ibmpfd2
Msp2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 2, also known as multisystem proteinopathy 2, is related to inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 and malaria. An important gene associated with Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 2 is LDB3 (LIM Domain Binding 3), and among its related pathways/superpathways is Involvement of -secretase in neurodegenerative diseases. Affiliated tissues include bone and placenta, and related phenotypes are Increased SMN2 exon 7 inclusion and homeostasis/metabolism
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Basic Information

Inheritance
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Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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15
209
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Medical Symptom

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Gene & Mutation

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MGI
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References Literature

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