PedAM
Pediatric Disease Annotations & Medicines
| Disease | muscular dystrophy |
| Phenotype | C0014527|epidermolysis bullosa |
| Sentences | 15 |
| PubMedID- 23748243 | In 1996, several groups reported that patients suffering from the skin blistering disease epidermolysis bullosa simplex with muscular dystrophy, lacked plectin expression in skin and muscle tissues due to defects in the plectin gene (chavanas et al. |
| PubMedID- 26019234 | The most common disease caused by mutations in the human plectin gene, epidermolysis bullosa simplex with muscular dystrophy (ebs-md), is characterized by severe skin blistering and progressive muscular dystrophy. |
| PubMedID- 26487297 | Its deficiency leads to severe pathological changes in skeletal muscle fibers of patients suffering from epidermolysis bullosa simplex with muscular dystrophy (ebs-md). |
| PubMedID- 25971800 | epidermolysis bullosa simplex associated with late-onset muscular dystrophy (ebs-md) is an autosomal recessive disorder resulting from mutations in the plectin gene. |
| PubMedID- 23289980 | Background: genetic mutations in the plectin gene (plec) cause autosomal recessive forms of epidermolysis bullosa simplex (ebs) associated with either muscular dystrophy (ebs-md) or pyloric atresia (ebs-pa). |
| PubMedID- 24487589 | Patients suffering from plectinopathy-associated epidermolysis bullosa simplex with muscular dystrophy (ebs-md) and mice lacking plectin in skeletal muscle display pathological desmin-positive protein aggregation and misalignment of z-disks, which are hallmarks of myofibrillar myopathies (mfms). |
| PubMedID- 20447487 | epidermolysis bullosa simplex with muscular dystrophy. |
| PubMedID- 21674528 | epidermolysis bullosa associated with muscular dystrophy is a rare, autosomal recessive form of epidermolysis bullosa simplex caused by mutations in the plectin gene, plec1. |
| PubMedID- 25454730 | This case highlights the potential for delayed onset muscular dystrophy in patients with epidermolysis bullosa simplex. |
| PubMedID- 22144912 | Autosomal recessive mutations in the cytolinker protein plectin account for the multisystem disorders epidermolysis bullosa simplex (ebs) associated with muscular dystrophy (ebs-md), pyloric atresia (ebs-pa), and congenital myasthenia (ebs-cms). |
| PubMedID- 25447312 | The most common disease caused by mutations in the human plectin gene, epidermolysis bullosa simplex with muscular dystrophy (ebs-md), is characterized by severe skin blistering and progressive muscular dystrophy. |
| PubMedID- 20016501 | Plec1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy. |
| PubMedID- 25209331 | epidermolysis bullosa simplex with muscular dystrophy (ebs-md; omim 226670) is an autosomal recessive form of ebs, characterized by skin blistering at birth and delayed onset of muscle dystrophy. |
| PubMedID- 23671309 | The linkage between desmin and the dapc appears to be mediated by the giant cytolinker protein plectin, mutations in which also underlie muscular dystrophy with skin blistering (epidermolysis bullosa simplex; smith et al., 1996). |
| PubMedID- 20624679 | Mutations in the plec1 gene encoding plectin have been reported in neonatal epidermolysis bullosa simplex with muscular dystrophy of later-onset (ebs-md). |
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