PedAM

Pediatric Disease Annotations & Medicines

Disease	epidermolysis bullosa
Symptom	C0026850\|muscular dystrophy
Sentences	16
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- 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- 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- 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- 23748243	In 1996, several groups reported that mutations in the plectin gene (plec) were the cause of autosomal recessive forms of the skin disease epidermolysis bullosa simplex associated with muscular dystrophy (ebs-md; omim # 226670).
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- 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- 20016501	Plec1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy.
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- 25454730	This case highlights the potential for delayed onset muscular dystrophy in patients with epidermolysis bullosa simplex.
PubMedID- 26017636	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- 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- 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- 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- 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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