Načítá se...
A Rare Cause of Autism Spectrum Disorder: Megaconial Muscular Dystrophy
Megaconial congenital muscular dystrophy (OMIM 602541) is defined by early-onset hypotonia, mildly elevated serum creatine kinase (CK) levels, muscle wasting, cardiomyopathy, psychomotor developmental delay and intellectual disability. The disease is caused by loss-of-function mutations in Choline k...
Uloženo v:
| Vydáno v: | Ann Indian Acad Neurol |
|---|---|
| Hlavní autoři: | , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Wolters Kluwer - Medknow
2020
|
| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7887486/ https://ncbi.nlm.nih.gov/pubmed/33623274 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/aian.AIAN_98_19 |
| Tagy: |
Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!
|