Key result
A newborn infant with nemaline myopathy presenting with generalized weakness and respiratory failure showed a partial response to L-tyrosine treatment.
Case Report (n=1)
Congenital myopathies should be considered in the differential diagnosis of a floppy infant during the neonatal period, and muscle biopsy is important for diagnosis.
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L-tyrosine may merit trial in neonatal nemaline myopathy; leaves open confirmation in controlled studies.
Olukman et al. (2013) conducted a case report in Nemaline myopathy (n=1). L-tyrosine was evaluated on Clinical response. A newborn infant with nemaline myopathy presenting with generalized weakness and respiratory failure showed a partial response to L-tyrosine treatment.
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