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

We describe a man with Becker muscular dystrophy whose weakness was minimal in contrast to that of his more severely affected nephews. This man had a Klinefelter karyotype (47,XXY) and his mild symptoms may be attributed to him being heterozygous for the muscular dystrophy gene. This is the first report of a person with both Klinefelter's syndrome and Becker muscular dystrophy. This combination may be one explanation for the variable expression of X linked muscular dystrophy noted in some pedigrees.
 ...
PMID:Becker muscular dystrophy (BMD) and Klinefelter's syndrome: a possible cause of variable expression of BMD within a pedigree. 271 35

A 27-year-old man had both autosomal dominant myotonic muscular dystrophy and classic trisomy 21 Down syndrome. Down syndrome had been recognized many years before the myotonic dystrophy. Although he had the typical stigmata of Down syndrome, he functioned socially with an I.Q. of 50. There was no evidence that either of the two diseases adversely affected the manifestations of the other. Although the occurrence of these two disorders in the same patient could be coincidental, this is at least the fifth report of myotonic dystrophy associated with chromosomal aneuploidy; the previous foud patients all had Klinefelter syndrome (47, XXY).
 ...
PMID:Myotonic dystrophy associated with Down syndrome (trisomy 21). 645 87

Hypertrophic cardiomyopathy (HCM) is a rare cardiac complication in patients with Klinefelter syndrome. We report the case of a 67-year-old Japanese man with Klinefelter syndrome, HCM, sick sinus syndrome, and coronary arteriovenous fistula, in whom the 47XXY/46XY mosaic pattern was revealed by chromosomal study. Echocardiography revealed HCM with an interventricular septum thickness of 17 mm and a left ventricular posterior wall thickness of 10 mm. Sick sinus syndrome type III was diagnosed by paroxysmal atrial fibrillation (longest sinus arrest 9.0 sec) on 24-h Holter ECG recording. Coronary arteriovenous fistula was detected from the left anterior descending artery to the right ventricle by coronary arteriography. To our knowledge, this is the first case report of Klinefelter syndrome with HCM. As there have been a few reports of patients with Klinefelter syndrome in association with skeletal muscular diseases such as Becker-type muscular dystrophy or myotonic dystrophy, the gene mutation that causes Klinefelter syndrome may occur in the cardiac muscle. HCM may represent another variable expression of this chromosomal abnormality.
 ...
PMID:An elderly man with Klinefelter syndrome associated with hypertrophic cardiomyopathy, sick sinus syndrome, and coronary arteriovenous fistula. 958 52