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Article

MUSK, a new target for mutations causing congenital myasthenic syndrome.

Human molecular genetics - 15 Dec 2004

Chevessier Frédéric, Faraut Brice, Ravel-Chapuis Aymeric, Richard Pascale, Gaudon Karen, Bauché Stéphanie, Prioleau Cassandra, Herbst Ruth, Goillot Evelyne, Ioos Christine, Azulay Jean-Philippe, Attarian Shahram, Leroy Jean-Paul, Fournier Emmanuel, Legay Claire, Schaeffer Laurent, Koenig Jeanine, Fardeau Michel, Eymard Bruno, Pouget Jean, Hantaï Daniel

Abstract excerpt

We report the first case of a human neuromuscular transmission dysfunction due to mutations in the gene encoding the muscle-specific receptor tyrosine kinase (MuSK). Gene analysis identified two heteroallelic mutations, a frameshift mutation (c.220insC) and a missense mutation (V790M). The muscle biopsy showed dramatic pre- and postsynaptic structural abnormalities of the neuromuscular junction and severe...

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Share to DNA Mutational Analysis
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Myasthenic Syndromes, Congenital

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Share to Polymorphism, Genetic

Share to Receptor Protein-Tyrosine Kinases

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Source

Identifiers

PMID: 15496425
DOI: 10.1093/hmg/ddh333

Genes

MUSK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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MUSK, a new target for mutations causing congenital myasthenic syndrome.PMID 15496425Read ↗

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

A mouse model for congenital myasthenic syndrome due to MuSK mutations reveals defects in structure and function of neuromuscular junctionsSemantic proximity Read ↗

Mutations in MUSK causing congenital myasthenic syndrome impair MuSK–Dok-7 interactionSemantic proximity Read ↗

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Congenital myasthenic syndromes: where do we go from here?Semantic proximity Read ↗

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