Nemaline Myopathy 5a (ANM)

Alias:
Nemaline Myopathy 5, Amish Type
Nemaline Myopathy 5
Amish Nemaline Myopathy
Nem5
Anm
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Nemaline Myopathy 5a, also known as nemaline myopathy 5, amish type, is related to nemaline myopathy and dilated cardiomyopathy. An important gene associated with Nemaline Myopathy 5a is TNNT1 (Troponin T1, Slow Skeletal Type), and among its related pathways/superpathways are Cardiac conduction and Striated muscle contraction pathway. Affiliated tissues include skeletal muscle, and related phenotypes are intellectual disability and tremor
Related ID:
MESH:C538397

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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11
54
10

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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