Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency
about
Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophyNew horizons for congenital myasthenic syndromesA compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiencyCongenital myasthenic syndromes: pathogenesis, diagnosis, and treatmentThe many faces of plectin and plectinopathies: pathology and mechanismsNeuromuscular synapse integrity requires linkage of acetylcholine receptors to postsynaptic intermediate filament networks via rapsyn-plectin 1f complexes.Characterization of structural changes in vimentin bearing an epidermolysis bullosa simplex-like mutation using site-directed spin labeling and electron paramagnetic resonance.Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia.Congenital myasthenic syndromes in 2012.Myasthenic syndrome caused by plectinopathyCurrent status of the congenital myasthenic syndromes.The therapy of congenital myasthenic syndromes.Clinical aspects of myasthenia explained.Plectin-intermediate filament partnership in skin, skeletal muscle, and peripheral nerve.Mitochondrial dysfunction: a neglected component of skin diseases.Mitochondrial abnormalities in the myofibrillar myopathies.Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report.Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE.A Missense Variant in PLEC Increases Risk of Atrial Fibrillation.Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy.
P2860
Q24309219-ABB85D39-0678-404C-901B-C24401011ED6Q24632782-F389EE8B-CD5D-44DD-8013-4EB6E1F52979Q24685930-345F221E-A915-435F-9167-A27459A89D3BQ28082722-B901EB36-75B1-4777-8B4C-2A3332DA478EQ28272509-FB0327BB-51CB-4AB7-98D1-E578EBC612DFQ30607560-673FCF72-3AD3-473F-AA9E-B422ABB58B3BQ33996864-51603878-96FE-45E5-BC9A-A3143BB4416AQ34219855-3AA7EC6B-FC85-4DC7-AD79-CC9D5D9C232EQ34407051-6ED10D2D-F5CD-4F2C-A8D9-0B26EB780F1DQ34555442-1CF8B0F9-DA24-428E-A287-C8A0DD04CD74Q35718489-5436A7A8-0FAD-4CBF-BA8B-4A1E624A4AFDQ36774720-4E4A77E2-693B-45ED-8E7B-5074812CBBD9Q37727997-5AEFC6C8-41CC-4534-B211-C5B043F930FAQ38113065-D8FDD12E-7BEC-4918-9805-0202820FC372Q38224847-E707D935-F64C-4C6A-AF9D-3035A886713CQ38552890-F93D8849-3981-4587-B63C-53BAD7846097Q39236300-4FAE6768-B2C4-4DE7-8EBF-0E31134EE644Q45951207-AC884CBE-E808-4AFD-93C7-701EAAEE6723Q47118329-7B74301E-9CC0-437C-A0DA-4CBB3C468287Q48575004-4CC2054F-9477-475F-AA5E-39520FA30D42
P2860
Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency
description
1999 nî lūn-bûn
@nan
1999 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Myopathy, myasthenic syndrome, ...... plex due to plectin deficiency
@ast
Myopathy, myasthenic syndrome, ...... plex due to plectin deficiency
@en
Myopathy, myasthenic syndrome, ...... plex due to plectin deficiency
@nl
type
label
Myopathy, myasthenic syndrome, ...... plex due to plectin deficiency
@ast
Myopathy, myasthenic syndrome, ...... plex due to plectin deficiency
@en
Myopathy, myasthenic syndrome, ...... plex due to plectin deficiency
@nl
prefLabel
Myopathy, myasthenic syndrome, ...... plex due to plectin deficiency
@ast
Myopathy, myasthenic syndrome, ...... plex due to plectin deficiency
@en
Myopathy, myasthenic syndrome, ...... plex due to plectin deficiency
@nl
P2093
P1476
Myopathy, myasthenic syndrome, ...... plex due to plectin deficiency
@en
P2093
P304
P356
10.1097/00005072-199908000-00006
P407
P577
1999-08-01T00:00:00Z