Gene table: search width pubmed_id = 10446808


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Disease phenotype
Item
in
this
table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Myasthenic syndrome, with plectin defect - (AR)
11.36
10446808
21263134
PLEC (8q24.3)
Plectin
* Limb-girdle, muscular dystrophy, type 2q - LGMD2Q
* Epidermolysis bullosa simplex associated with late-onset muscular dystrophy - MDEBS
* Myasthenic syndrome, with plectin defect
* Limb girdle muscular dystrophy with ophthalmoplegia