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Muscle carnitine deficiency presenting as familial fatal cardiomyopathy.

Three siblings presented with fatal cardiomyopathy confirmed by electron microscopy, and normal serum but low muscle carnitine concentrations. A fourth had similar signs but remained asymptomatic. He was treated with carnitine orally which increased the concentration in muscle, though it remained be...

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Detalhes bibliográficos
Main Authors: Colin, A A, Jaffe, M, Shapira, Y, Ne'eman, Z, Gutman, A, Korman, S
Formato: Artigo
Idioma:Inglês
Publicado em: 1987
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1778534/
https://ncbi.nlm.nih.gov/pubmed/3688923
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