Muscle carnitine deficiency and fatal cardiomyopathy

Z. H. Hart, C. H. Chang, S. Di Mauro, Q. Farooki, R. Ayyar

Research output: Contribution to journalArticle

60 Citations (Scopus)

Abstract

A 23-month-old boy with progressive muscle weakness and severe cardiomyopathy was found to have oil red O positive vacuoles predominantly in type I muscle fibers. Serum carnitine was normal, but muscle carnitine content was decreased. Both parents were clinically normal, but the muscle carnitine level was low in the father. Despite oral treatment with carnitine, the condition progressed and was fatal. At autopsy, cardiac muscle showed borderline low carnitine content and numerous mitochondria, but no lipid accumulation.

Original languageEnglish
Pages (from-to)147-151
Number of pages5
JournalNeurology
Volume28
Issue number2
StatePublished - Dec 29 1978
Externally publishedYes

Fingerprint

Carnitine
Cardiomyopathies
Muscles
Slow-Twitch Muscle Fibers
Muscle Weakness
Vacuoles
Fathers
Autopsy
Myocardium
Mitochondria
Parents
Lipids
Serum

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Hart, Z. H., Chang, C. H., Di Mauro, S., Farooki, Q., & Ayyar, R. (1978). Muscle carnitine deficiency and fatal cardiomyopathy. Neurology, 28(2), 147-151.

Muscle carnitine deficiency and fatal cardiomyopathy. / Hart, Z. H.; Chang, C. H.; Di Mauro, S.; Farooki, Q.; Ayyar, R.

In: Neurology, Vol. 28, No. 2, 29.12.1978, p. 147-151.

Research output: Contribution to journalArticle

Hart, ZH, Chang, CH, Di Mauro, S, Farooki, Q & Ayyar, R 1978, 'Muscle carnitine deficiency and fatal cardiomyopathy', Neurology, vol. 28, no. 2, pp. 147-151.
Hart ZH, Chang CH, Di Mauro S, Farooki Q, Ayyar R. Muscle carnitine deficiency and fatal cardiomyopathy. Neurology. 1978 Dec 29;28(2):147-151.
Hart, Z. H. ; Chang, C. H. ; Di Mauro, S. ; Farooki, Q. ; Ayyar, R. / Muscle carnitine deficiency and fatal cardiomyopathy. In: Neurology. 1978 ; Vol. 28, No. 2. pp. 147-151.
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