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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Pubblicato in:Muscle Nerve
Autori principali: Saredi, Simona, Cauley, Edmund S., Ruggieri, Alessandra, Spivey, Tyler M., Ardissone, Anna, Mora, Marina, Moroni, Isabella, Manzini, M. Chiara
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2020
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Article
Accesso online: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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