epidermolysis bullosa simplex/asthenia

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Epidermolysis bullosa simplex associated with muscular dystrophy: phenotype-genotype correlations and review of the literature.

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Prijava Registriraj se

BACKGROUND Epidermolysis bullosa simplex associated with muscular dystrophy (EBS-MD; OMIM# 226670) is an autosomal recessive disorder caused by genetic defects in the plectin gene. Because EBS-MD is relatively rare, and gene defects have been elucidated only in a limited number of patients, the

Epidermolysis bullosa simplex (Koebner) is a keratin disorder. Ultrastructural and immunohistochemical study.

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Prijava Registriraj se

A skin biopsy specimen was obtained from a 1-month-old female with epidermolysis bullosa simplex (Koebner). Histologically, an intraepidermal separation was seen and considered to be formed by cytolysis of the epidermal basal cells. Ultrastructurally, the basal cells were lacking in cytoplasmic

Epidermolysis bullosa simplex with muscular dystrophy associated with PLEC deletion mutation.

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Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD; OMIM #226670) is an autosomal recessive disorder characterized by neonatal blistering and later-onset muscle weakness.

Mutation reports: epidermolysis bullosa simplex associated with severe mucous membrane involvement and novel mutations in the plectin gene.

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We report a novel case of epidermolysis bullosa simplex with severe mucous membrane involvement and mutations in the plectin gene (PLEC1). The patient suffered from extensive blistering of the skin and oral and laryngeal mucous membranes. Electron microscopy of a lesional skin biopsy showed cleft

A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387) causes epidermolysis bullosa simplex* with muscular dystrophy and diffuse alopecia: a case report.

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Prijava Registriraj se

Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD; OMIM #226670) is an autosomal recessive disease, characterized mainly by skin blistering at birth or shortly thereafter, progressive muscle weakness, and rarely by alopecia. EBS-MD is caused by mutations in the PLEC gene (OMIM *601282),

Left ventricular non-compaction cardiomyopathy associated with epidermolysis bullosa simplex with muscular dystrophy and PLEC1 mutation.

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Prijava Registriraj se

Plectin mutations have been reported in epidermolysis bullosa simplex with muscular dystrophy. We report the first case of left ventricular non-compaction in an 18-year-old male with epidermolysis bullosa simplex with muscular dystrophy. The patient was diagnosed with epidermolysis bullosa simplex

Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency.

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Plectin, an intermediate filament linking protein, is normally associated with the sarcolemma, nuclear membrane, and intermyofibrillar network in muscle, and with hemisdesmosomes in skin. A 20-year-old female with epidermolysis bullosa simplex since birth had progressive ocular, facial, limb, and

Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency.

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Prijava Registriraj se

Epidermolysis bullosa associated with muscular dystrophy is a rare, autosomal recessive form of epidermolysis bullosa simplex caused by mutations in the plectin gene, PLEC1. We describe a phenotypically mild case due to compound heterozygous mutations in PLEC1 (2677_2685del and the novel mutation

Myasthenic syndrome caused by plectinopathy.

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Prijava Registriraj se

BACKGROUND Plectin crosslinks intermediate filaments to their targets in different tissues. Defects in plectin cause epidermolysis bullosa simplex (EBS), muscular dystrophy (MD), and sometimes pyloric atresia. Association of EBS with a myasthenic syndrome (MyS) was documented in a single patient in

Neuromuscular synapse integrity requires linkage of acetylcholine receptors to postsynaptic intermediate filament networks via rapsyn-plectin 1f complexes.

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Mutations in the cytolinker protein plectin lead to grossly distorted morphology of neuromuscular junctions (NMJs) in patients suffering from epidermolysis bullosa simplex (EBS)-muscular dystrophy (MS) with myasthenic syndrome (MyS). Here we investigated whether plectin contributes to the structural

Ectodermal dysplasia-skin fragility syndrome.

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Pathogenic mutations have now been described in ten different desmosomal proteins: plakophilin 1 (PKP1) and 2 (PKP2); desmoplakin; plakoglobin; desmoglein 1, 2, and 4; desmocollin 2, and 3 corneodesmosin. Nevertheless, the first report of an inherited desmosomal gene disorder, published in 1997,

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epidermolysis bullosa simplex/asthenia

Epidermolysis bullosa simplex associated with muscular dystrophy: phenotype-genotype correlations and review of the literature.

Epidermolysis bullosa simplex (Koebner) is a keratin disorder. Ultrastructural and immunohistochemical study.

Epidermolysis bullosa simplex with muscular dystrophy associated with PLEC deletion mutation.

Mutation reports: epidermolysis bullosa simplex associated with severe mucous membrane involvement and novel mutations in the plectin gene.

A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report.

Left ventricular non-compaction cardiomyopathy associated with epidermolysis bullosa simplex with muscular dystrophy and PLEC1 mutation.

Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency.

Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency.

Myasthenic syndrome caused by plectinopathy.

Neuromuscular synapse integrity requires linkage of acetylcholine receptors to postsynaptic intermediate filament networks via rapsyn-plectin 1f complexes.

Ectodermal dysplasia-skin fragility syndrome.

Najkompletnija baza ljekovitog bilja potpomognuta znanošću

A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387) causes epidermolysis bullosa simplex* with muscular dystrophy and diffuse alopecia: a case report.