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Combined partial deficiency of muscle carnitine palmitoyltransferase and carnitine with autosomal dominant inheritance.
The authors studied a 53 year old woman and her 22 year old son with episodes of paroxysmal muscle cramps and dark urines lasting several hours related to high fat diet and strenuous physical exercise beginning on both at age 14 years. The father, paternal uncle, paternal grandfather and another son...
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| Publicado no: | J Neurol Neurosurg Psychiatry |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
1980
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC490638/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7431028/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jnnp.43.8.679 |
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