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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...
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| Publicado no: | Ann Indian Acad Neurol |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wolters Kluwer - Medknow
2020
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| Assuntos: | |
| Acesso em linha: | 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 |
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