Myasthenie.com

Lu sur : https://www.ncbi.nlm.nih.gov/pubmed/32253145

 
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Titre de l'article
 Syndrome de myasthénie congénitale dans une famille chinoise avec des mutations dans MUSK
Congenital myasthenia syndrome in a Chinese family with mutations in MUSK: A hotspot mutation and literature review.
Date de l'article J Clin Neurosci. 2020 Apr 3. pii: S0967-5868(19)32421-X. doi: 10.1016/j.jocn.2020.03.036. [Epub ahead of print]

Contenu de l'article

Congenital myasthenic syndrome (CMS) caused by mutations in MUSK is very rare and the genotype-phenotype relationship in MUSK related CMS is still unclear.

Here we identified two patients carrying a homozygous hotspot mutation, c.308A > G in MUSK from a Chinese family.

Both of them presented predominant bulbar weakness and atrophy of bilateral temporalis and masticatory muscles.

To address the phenotype-genotype relationship, a total of 27 MUSK related CMS patients were reviewed.

Patients with nonsense, frameshift or splicing mutations showed earlier onset (10/13 vs 2/14 neonatal onset, p = 0.0018) and more occurrence of vocal cord paralysis or stridor (8/13 vs 0/14, p = 0.0006), indicating a more severe phenotype.

Comparing with patients carrying other missense mutations, the four patients carrying a homozygous c.308A > G mutation showed the female predominance (4/10 vs 4/4) and dramatic exacerbation after emotional or physiological stresses (2/10 vs 4/4) like pregnancy, menstrual periods and infection.

All these indicated a genotype-phenotype relationship in MUSK-related CMS.
 
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