Article
Congenital nemaline myopathy due to ACTA1-gene mutation and carnitine insufficiency: a case report.
Neuropediatrics - 1 Oct 2001
Buxmann H, Schlösser R, Schlote W, Sewell A, Nowak K J, Laing N G, Loewenich V
Abstract excerpt
A premature boy with a congenital form of nemaline myopathy due to mutation in the ACTA1-gene showed decreased carnitine levels in the eighth week of life. After sufficient oral carnitine substitution he improved gradually. In the first 15 months of life he made good progress; he reached full head control, learned to sit unsupported and was able to raise objects. At that time the carnitine levels were normal...
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