PedAM
Pediatric Disease Annotations & Medicines
| Disease | muscular dystrophy |
| Phenotype | C0025362|mental retardation |
| Sentences | 6 |
| PubMedID- 22335324 | High concentration of middle chain fatty acid in a case of duchenne muscular dystrophy with severe mental retardation. |
| PubMedID- 21727005 | The most severe phenotypes are walker-warburg syndrome (wws) and muscle-eye-brain disease (meb) presenting with lissencephaly type ii (lis ii) and in which muscular dystrophy is associated with mental retardation and eye abnormalities. |
| PubMedID- 26380289 | The first case of a homozygous missense mutation in the dag1 gene was described in a 16-year-old patient [21] originally described as affected by a mild form of limb-girdle muscular dystrophy associated with mental retardation but normal brain imaging (recently classified as limb-girdle muscular dystrophy 2p [51]). |
| PubMedID- 23223008 | Molecular characterization of an x(p21.2;q28) chromosomal inversion in a duchenne muscular dystrophy patient with mental retardation reveals a novel long non-coding gene on xq28. |
| PubMedID- 26133662 | The clinical spectrum varies, ranging from a relatively mild phenotype restricted to the limb girdles, through congenital muscular dystrophy with mental retardation, to severe congenital muscular dystrophy with structural brain and eye defects. |
| PubMedID- 21397023 | mental retardation is a feature of x-linked duchenne muscular dystrophy (dmd) which likely results from the loss of the brain full-length (dp427) and short c-terminal products of the dystrophin gene, such as dp71. |
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