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Myopathic changes associated with psychomotor delay and seizures caused by a novel homozygous mutation in TBCK
INTRODUCTION: Biallelic mutations in TBC1-domain containing kinase (TBCK) lead to hypotonia, global developmental delay with severe cognitive and motor deficits, and variable presentation of dysmorphic facial features and brain malformations. It remains unclear whether hypotonia in these individuals...
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| Publicado en: | Muscle Nerve |
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| Autores principales: | , , , , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2020
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7369155/ https://ncbi.nlm.nih.gov/pubmed/32363625 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mus.26907 |
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