Histochemical, biochemical and electromyographic studies were performed in a case of carnitine deficiency in serum and in muscle. Clinical features include proximal muscle weakness, predominant type I fiber impairment, excess of triglycerides and moderate glycogen accumulation in muscle. No abnormalities of palmityl CoA synthetase, carnitine palmityl transferase, carnitine acetyl transferase and lipase were evidenced. An interesting EMG decremental pattern was recorded. Correlations between electromyographic and biochemical findings are considered. A clinical improvement, a normal plasma carnitine level and a normal response at EMG repetitive stimulation were found after carnitine treatment.

Scarlato, G., Albizzati, M., Bassi, S., Cerri, C., & Frattoła, L. (1977). A case of lipid storage myopathy with carnitine deficiency: Biochemical and electromyographic correlations. EUROPEAN NEUROLOGY, 16(1-6), 222-229 [10.1159/000114903].

A case of lipid storage myopathy with carnitine deficiency: Biochemical and electromyographic correlations

CERRI, CESARE GIUSEPPE;
1977

Abstract

Histochemical, biochemical and electromyographic studies were performed in a case of carnitine deficiency in serum and in muscle. Clinical features include proximal muscle weakness, predominant type I fiber impairment, excess of triglycerides and moderate glycogen accumulation in muscle. No abnormalities of palmityl CoA synthetase, carnitine palmityl transferase, carnitine acetyl transferase and lipase were evidenced. An interesting EMG decremental pattern was recorded. Correlations between electromyographic and biochemical findings are considered. A clinical improvement, a normal plasma carnitine level and a normal response at EMG repetitive stimulation were found after carnitine treatment.
Articolo in rivista - Articolo scientifico
Scientifica
carnitine
English
Scarlato, G., Albizzati, M., Bassi, S., Cerri, C., & Frattoła, L. (1977). A case of lipid storage myopathy with carnitine deficiency: Biochemical and electromyographic correlations. EUROPEAN NEUROLOGY, 16(1-6), 222-229 [10.1159/000114903].
Scarlato, G; Albizzati, M; Bassi, S; Cerri, C; Frattoła, L
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10281/33812
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