Journal of clinical neuromuscular disease
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J Clin Neuromuscul Dis · Sep 2010
Case ReportsAdult-onset acid maltase deficiency with isolated axial muscle involvement.
We report a patient with acid maltase deficiency who presented with subacute respiratory failure as the first symptom without significant extremity weakness. ⋯ It is essential to examine axial muscles during electromyography if a patient presents with respiratory failure of unclear etiology even if the clinical examination does not show significant weakness in the extremities and electromyographic findings in the extremities are unremarkable.