Myopathy, X-Linked, with Postural Muscle Atrophy (XMPMA)

Alias:
Emery-Dreifuss Muscular Dystrophy 6, X-Linked
Xmpma
X-Linked Myopathy with Postural Muscle Atrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 6
Edmd6
Emd6
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Myopathy, X-Linked, with Postural Muscle Atrophy, also known as emery-dreifuss muscular dystrophy 6, x-linked, is related to myopathy and emery-dreifuss muscular dystrophy, and has symptoms including back pain An important gene associated with Myopathy, X-Linked, with Postural Muscle Atrophy is FHL1 (Four And A Half LIM Domains 1), and among its related pathways/superpathways are Cell Cycle, Mitotic and Meiosis. Affiliated tissues include skeletal muscle and heart, and related phenotypes are scoliosis and short neck
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Adult
<1/1000000
14
122
33

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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