Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome.

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...

書誌詳細
主要な著者:	Jephson, C, Mills, N, Pitt, M, Beeson, D, Aloysius, A, Muntoni, F, Robb, SA, Bailey, C
フォーマット:	Journal article
言語:	English
出版事項:	2010

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