期刊
JOURNAL OF INHERITED METABOLIC DISEASE
卷 27, 期 5, 页码 671-678出版社
WILEY
DOI: 10.1023/B:BOLI.0000042986.10291.e9
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We report a patient with lipid-storage myopathy due to multiple acyl-CoA dehydrogenation deficiency (MADD). Molecular genetic analysis showed that she was compound heterozygous for mutations in the gene for electron transfer flavoprotein: ubiquinone oxidoreductase (ETFQO). Despite a good initial response to treatment, she developed respiratory insufficiency at age 14 years and has required long-term overnight ventilation. Thus, MADD is one of the few conditions that can cause a myopathy with weakness of the respiratory muscles out of proportion to the limb muscles.
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