Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure.

Publication Year: 2019

DOI:
10.1002/humu.23949

PMCID:
PMC7028094

PMID:
31765060

Journal Information

Full Title: Hum Mutat

Abbreviation: Hum Mutat

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics, Medical

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

Transparency Score
2/6
0.0% Transparent
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Evidence found in paper:

"The authors thank the patients who participated in the study and Myaware (Myasthenia Gravis Association) for support. We gratefully acknowledge the UK NHS National Highly Specialized Service for funding to the Diagnostic and Advisory service for CMS in Oxford. DB holds MRC Program Grant MR/M006824/1. All remaining authors have declared no conflicts of interest."

Evidence found in paper:

"The authors thank the patients who participated in the study and Myaware (Myasthenia Gravis Association) for support. We gratefully acknowledge the UK NHS National Highly Specialized Service for funding to the Diagnostic and Advisory service for CMS in Oxford. DB holds MRC Program Grant MR/M006824/1. All remaining authors have declared no conflicts of interest."

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Open Access
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Tool: rtransparent

OST Version: N/A

Last Updated: Aug 05, 2025