eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | epidermolysis bullosa |
| Symptom | C0026850|muscular dystrophy |
| Sentences | 14 |
| 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- 25454730 | Plectin mutations have been reported in epidermolysis bullosa simplex with muscular dystrophy. |
| 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). |
| PubMedID- 25487405 | In contrast to autosomal recessive mutations in plectin, which account for the multisystem disorders epidermolysis bullosa simplex (ebs) associated with muscular dystrophy (ebs-md), pyloric atresia (ebs-pa) and congenital myasthenia (ebs-cms), the rare ebs-ogna mutation manifests exclusively in skin, where it leads to blister formation in basal cells immediately above hds (koss-harnes et al. |
| 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- 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- 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- 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- 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- 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- 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. |
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