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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Detalles Bibliográficos
Autores principales: Kutluk, Gultekin, Kadem, Naz, Bektas, Omer, Eroglu, Hatice Nur
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7887486/
https://www.ncbi.nlm.nih.gov/pubmed/33623274
http://dx.doi.org/10.4103/aian.AIAN_98_19

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