Log In|Sign Up
中文Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Alias:
Lower Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy
Smaled
Favorite
常染色体显性儿童期近端脊髓性肌萎缩，又称下肢优势常染色体显性近端脊髓性肌萎缩，与下肢优势脊髓性肌萎缩和常染色体显性下肢优势脊髓性肌萎缩1型有关。常染色体显性儿童期近端脊髓性肌萎缩相关的重要基因是DYNC1H1（动力蛋白胞质1重链1）。相关组织包括骨和脑。
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
