Congenital Myopathy 1a, Autosomal Dominant, with Malignant Hyperthermia (CMYP1A)

Alias:
Congenital Myopathy 1a, Autosomal Dominant, with Susceptibility to Malignant Hyperthermia
Central Core Disease of Muscle
Central Core Myopathy
Cmyp1a
Ccd
Moderate Multiminicore Disease with Hand Involvement
Central Core Disease
Cco
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Congenital Myopathy 1a, Autosomal Dominant, with Malignant Hyperthermia, also known as congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia, is related to king-denborough syndrome and congenital myopathy 1b, autosomal recessive, and has symptoms including generalized muscle weakness An important gene associated with Congenital Myopathy 1a, Autosomal Dominant, with Malignant Hyperthermia is RYR1 (Ryanodine Receptor 1). Affiliated tissues include skeletal muscle and skin, and related phenotypes are facial palsy and neonatal hypotonia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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1
24
69

Medical Symptom

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Gene & Mutation

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Disease Model

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MGI
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References Literature

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