Lethal Congenital Contracture Syndrome 4 (LCCS4)

Alias:
Lccs4
Contracture Syndrome, Lethal, Congenital, Type 4
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Lethal Congenital Contracture Syndrome 4, also known as lccs4, is related to lethal congenital contracture syndrome and distal arthrogryposis. An important gene associated with Lethal Congenital Contracture Syndrome 4 is MYBPC1 (Myosin Binding Protein C1), and among its related pathways/superpathways are Cardiac conduction and Striated muscle contraction pathway. Affiliated tissues include skeletal muscle, and related phenotypes are respiratory insufficiency and flexion contracture
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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6
34
1

Medical Symptom

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Gene & Mutation

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References Literature

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