Log In|Sign Up
中文Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 (LGMDR12)
Alias:
Muscular Dystrophy, Limb-Girdle, Type 2l
Lgmd2l
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l
Lgmdr12
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Dystrophy, Muscular, Limb-Girdle, Type 2l
Limb-Girdle Muscular Dystrophy Type 2l
Limb-Girdle Muscular Dystrophy 2l
Anoctamin-5-Related Lgmd R12
Lgmd Type 2l
Favorite
肌营养不良症，肢带型，常染色体隐性12型，又称肌营养不良症，肢带型，21型，与常染色体隐性肢带型肌营养不良21型和贝瑟尔肌病1型有关，症状包括肌肉疼痛。与肌营养不良症，肢带型，常染色体隐性12型有关的重要基因是ANO5（无环蛋白5）。相关组织包括骨骼肌和骨，相关表型为肢带型肌营养不良和下肢近端肌肉无力。
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
