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)

Seven families with histories of Duchenne's muscular dystrophy underwent DNA diagnosis. The daughters of those consulted were examined for the carriage in 4 families. Their carriage was rejected or confirmed. Prenatal diagnosis was made in 2 families. In another family an abortion preceded obtaining molecular-genetic evidence. Probes 754, p20, XJI.I and primers for amplification of the site pERI87-15 containing a polymorphic locus were employed. The genetic risk was assessed using the computer program GenRisk adjusted for family history and DNA test allowances.
 ...
PMID:[Carrier detection and prenatal diagnosis of Duchenne's muscular dystrophy based on DNA analysis]. 217 14

One of female MZ twins presented with muscular dystrophy. Physical examination, creatine phosphokinase levels, and muscle biopsy were consistent with Duchenne muscular dystrophy (DMD). However, because of her sex she was diagnosed as having limb-girdle muscular dystrophy. With cDNA probes to the DMD gene, a gene deletion was detected in the twins and their mother. The de novo mutation which arose in the mother was shown by novel junction fragments generated by HindIII, PstI, or TaqI when probed with cDNA8. Additional evidence of a large gene deletion was given by novel SfiI junction fragments detected by probes p20, J-Bir, and J-66 on pulsed-field gel electrophoresis (PFGE). Immunoblot analysis of muscle from the affected twin showed dystrophin of normal size but of reduced amount. Immunofluorescent visualization of dystrophin revealed foci of dystrophin-positive fibers adjacent to foci of dystrophin-negative fibers. These data indicate that the affected twin is a manifesting carrier of an abnormal DMD gene, her myopathy being a direct result of underexpression of dystrophin. Cytogenetic analysis revealed normal karyotypes, eliminating the possibility of a translocation affecting DMD gene function. Both linkage analysis and DNA fingerprint analysis revealed that each twin has two different X chromosomes, eliminating the possibility of uniparental disomy as a mechanism for DMD expression. On the basis of methylation differences of the paternal and maternal X chromosomes in these MZ twins, we propose uneven lyonization (X chromosome inactivation) as the underlying mechanism for disease expression in the affected female.
 ...
PMID:Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy. 218 Feb 86

Using three different analyses, we investigated the levels of the three small stress proteins alphaB crystallin, HSP 27 and p20 in the slow-twitch soleus muscle and fast-twitch tibialis anterior muscle of normal and dy mice. All of these analyses (immunoassay, Western blot and immunohistochemistry) showed markedly increased levels of these stress proteins in fast-twitch type muscle (tibialis anterior muscle) of dy mouse. In contrast, the levels of alphaB crystallin, HSP 27 and p20 of dy mouse were reduced in slow-twitch type muscle (soleus muscle). Manipulation of this protective response may reduce injury and may have potential therapeutic application in congenital muscular dystrophy (CMD), which possesses a deficiency of laminin-alpha2 chain in muscle fiber basement similar to dy mouse.
 ...
PMID:Pathological changes in levels of three small stress proteins, alphaB crystallin, HSP 27 and p20, in the hindlimb muscles of dy mouse. 957 53