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Article

A late-onset congenital myasthenic syndrome due to a heterozygous DOK7 mutation.

Neuromuscular disorders : NMD - 1 Apr 2020

Bastos Paulo, Barbosa Raquel, Fernandes Marco, Alonso Isabel

Abstract excerpt

Congenital myasthenic syndromes are disorders of the neuromuscular junction resulting from genetic defects in its components. Clinical presentations are diverse and virtually always of early onset. We report a 67-year-old female patient first presenting with episodes of sudden respiratory failure. A diagnosis of seronegative myasthenia gravis was put forward based on the presence of a limb-girdle pattern of...

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PMID: 32360404
DOI: 10.1016/j.nmd.2020.02.009

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