Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome.
OBJECTIVE: The congenital myasthenic syndromes (CMS) are a group of genetic disorders of neuromuscular transmission causing fatigable weakness. Symptoms may be present from birth, but diagnosis is often delayed for several years, notably in post-synaptic CMS due to mutations in the DOK7 gene. Recent...
| Auteurs principaux: | , , , , , , , |
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| Format: | Journal article |
| Langue: | English |
| Publié: |
2010
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