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PedAM

Pediatric Disease Annotations & Medicines




Disease duchenne muscular dystrophy
Phenotype C0025362|mental retardation
Sentences 4
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.
PubMedID- 22335324 High concentration of middle chain fatty acid in a case of duchenne muscular dystrophy with severe mental retardation.
PubMedID- 22344614 mental retardation in duchenne muscular dystrophy.
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.

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