Myopathy, Centronuclear, 5 (CNM5)

Alias:
Centronuclear Myopathy 5
Cnm5
Myopathy, Centronuclear, Type 5
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Myopathy, Centronuclear, 5, also known as centronuclear myopathy 5, is related to congenital muscular dystrophy-dystroglycanopathy a14 and myasthenic syndrome, congenital, 12, and has symptoms including ophthalmoplegia and facial paresis. An important gene associated with Myopathy, Centronuclear, 5 is SPEG (Striated Muscle Enriched Protein Kinase). Affiliated tissues include skeletal muscle, and related phenotypes are high palate and muscle weakness
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
--
13
68
2

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
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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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