Antonella Pizza Esther Picillo Maria Elena Onore Marianna Scutifero Luigia Passamano Vincenzo Nigro Luisa Politano
10.36185/2532-1900-246
Acta Myol
2023 Mar 31;42(1):24-30.
cgds dmd gkd il1rapl1 nr0b1 xp21 contiguous gene deletion syndrome
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/37091526/
Intellectual Disability / diagnosis Intellectual Disability / genetics Muscular Dystrophy, Duchenne / complications Muscular Dystrophy, Duchenne / diagnosis Muscular Dystrophy, Duchenne / genetics
Intellectual Disability / diagnosis Intellectual Disability / genetics Muscular Dystrophy, Duchenne / complications Muscular Dystrophy, Duchenne / diagnosis Muscular Dystrophy, Duchenne / genetics Case Reports Review Gene Deletion Glycerol Kinase / genetics Humans Hypoadrenocorticism, Familial / genetics Glycerol Kinase Hyperglycerolemia
PMC10115399
37091526
Xp21 contiguous gene deletion syndrome presenting as Duchenne muscular dystrophy and glycerol kinase deficiency associated with intellectual disability: case report and review literature
2023