Congenital Myopathy 8 (CMYP8)

Alias:
Myopathy, Congenital, with Structured Cores and Z-Line Abnormalities
Multiple Structured Core Disease
Myocoz
Cmyp8
Mscd
Myopathy, Congenital with Structured Cores and Z-Line Abnormalitie
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Congenital Myopathy 8, also known as myopathy, congenital, with structured cores and z-line abnormalities, is related to congenital myopathy and myopathy. An important gene associated with Congenital Myopathy 8 is ACTN2 (Actinin Alpha 2). The drugs Pioglitazone and Hypoglycemic Agents have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and heart, and related phenotypes are type 1 muscle fiber predominance and increased variability in muscle fiber diameter
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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1
4
1

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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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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