Congenital Myopathy 9b, Proximal, with Minicore Lesions (CMYP9B)

Alias:
Myopathy, Congenital Proximal, with Minicore Lesions
Myopmil
Cmyp9b
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Congenital Myopathy 9b, Proximal, with Minicore Lesions, is also known as myopathy, congenital proximal, with minicore lesions. An important gene associated with Congenital Myopathy 9b, Proximal, with Minicore Lesions is FXR1 (FMR1 Autosomal Homolog 1). Affiliated tissues include skeletal muscle and tongue, and related phenotypes are neonatal hypotonia and cryptorchidism
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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1
11
2

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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Disease Model

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MGI
Related Gene
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Publications
No data available

References Literature

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PMID
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