Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Blood plasma lipids were studied in patients with Duchenne's myodystrophy. The authors examined 40 patients, aged 3-16 years suffering from different stages of Duchenne's muscular dystrophy. Lipids and fractional composition of plasma phospholipids were investigated by thin-layer chromatography on "Silufol" plates; lipoproteins were assessed by the method of high voltage disk electrophoresis in polyacrylamide gel. The changes in plasma lipids were found to be correlated with both the stage of the myodystrophic process and the type of the disease course. The changes included blood plasma lipemia with increased levels of triglycerides, cholesterol and its esters and also a decrease in phospholipid concentrations with the concomitant redistribution of their fractions. A study of the blood plasma lipoprotein spectrum showed a rise in the values of chylomicrons, remnants and alpha-LP. The data obtained are important for objective determination of the disease stage.
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PMID:[Plasma lipids of patients with Duchenne's muscular dystrophy at different stages of the disease]. 667 60

X-linked dominant inheritance with lethality in hemizygous males is a rare mode of inheritance. The three best-known disorders which seem to be inherited in this way, are incontinentia pigmenti (IP) Bloch-Sulzberger, oral-facial-digital I (OFD I) syndrome, and focal dermal hypoplasia (FDH syndrome, Goltz syndrome). It is the purpose of this article to give a review of the clinical and genetic aspects of the above-mentioned diseases and to add those disorders in which this mode of inheritance is discussed. These disorders are: X-linked chondrodysplasia punctata (CP), cervico-oculo-acusticus syndrome (Wildervanck syndrome, COA), congenital cataract with microcornea or slight microphthalmia, muscular dystrophy--hemizygous lethal, partial lipodystrophy with lipatrophic diabetes and hyperlipidemia, Aicardi syndrome, coxo-auricular syndrome, and Johanson-Blizzard syndrome. OTC deficiency is included in the study, although there is no lethality in utero, only in the neonatal period. A critical evaluation of the current literature is carried out.
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PMID:X-linked dominant inherited diseases with lethality in hemizygous males. 687 41

Autosomal recessive Emery Dreifuss muscular dystrophy (AR-EDMD) is rare, with few reports in the medical literature. We describe the first cases of AR-EDMD and autosomal dominant familial partial lipodystrophy (FPLD) in the Hutterite population resulting from homozygous or heterozygous R482Q mutations in the lamin A/C gene (LMNA). Heterozygosity for LMNA R482Q mutation causes FPLD, which is associated with increased risk of hyperlipidemia and hypertension. The overall carrier frequency of the R482Q mutation in Dariusleut and Leherleut Hutterites in Alberta was found to be 1.45%. Homozygosity for this mutation has not been previously reported and here resulted in a combination of generalized lipodystrophy and EDMD. Knowledge that the LMNA R482Q mutation is present in this population is important for genetic counseling, surveillance, and management of the associated disorders.
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PMID:Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy. 2331 86