Myasthenic Syndrome, Congenital, 10 (CMS10)

Alias:
Congenital Myasthenic Syndrome 10
Cms10
Muscular Dystrophy, Congenital, Merosin-Positive
Myasthenia, Limb-Girdle, Familial
Lgm
Congenital Myasthenic Syndrome Type Ib, Formerly
Congenital Muscular Dystrophy Merosin-Positive
Myasthenia, Limb-Girdle, Familial, Formerly
Myasthenic Syndrome, Congenital, Type 10
Congenital Myasthenic Syndrome Type 1b
Congenital Myasthenic Syndrome Type Ib
Congenital Myasthenic Syndrome Ib
Familial Limb-Girdle Myasthenia
Myasthenic Myopathy, Formerly
Myopathy in Myasthenia Gravis
Myasthenic Myopathy
Cms Ib, Formerly
Cms1b, Formerly
Lgm, Formerly
Cms Ib
Cms1b
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Myasthenic Syndrome, Congenital, 10, also known as congenital myasthenic syndrome 10, is related to myasthenic syndrome, congenital, 1b, fast-channel and congenital myasthenic syndrome, and has symptoms including facial paresis An important gene associated with Myasthenic Syndrome, Congenital, 10 is DOK7 (Docking Protein 7). Affiliated tissues include brain and eye, and related phenotypes are decreased fetal movement and ophthalmoparesis
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
--
18
99
44

Medical Symptom

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

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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