Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation (Articolo in rivista)

Type

• Articolo in rivista (Classe)
• Prodotto della ricerca (Classe)

Label

• Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation (Articolo in rivista) (literal)

Anno

• 2003-01-01T00:00:00+01:00 (literal)

Alternative label

• Sabatelli P.1, Columbaro M.2, Mura I.2, Capanni C.3, Lattanzi G.1, Maraldi NM.1-3, Beltran-Valero de Barnabe D.4, Van Bokoven H.4, Squarzoni S.1, Merlini L.2 (2003)
  Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation
  
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Sabatelli P.1, Columbaro M.2, Mura I.2, Capanni C.3, Lattanzi G.1, Maraldi NM.1-3, Beltran-Valero de Barnabe D.4, Van Bokoven H.4, Squarzoni S.1, Merlini L.2 (literal)

Pagina inizio

• 57 (literal)

Pagina fine

• 62 (literal)

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• Collaborazione internazionale; lavoro di carattere interdisciplinare clinico, finanziato dal progetto Europeo MYOCLUSTER I.F. 3,300 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 1638 (literal)

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• I.F. 3,300 (literal)

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• Walker-Warburg syndrome (WWS) is an autosomal recessive disorder characterized by congenital muscular dystrophy, structural eye abnormalities and severe brain malformations. We performed an immunohistochemical and electron microscopy study of a muscle biopsy from a patient affected by WWS carrying a homozygous frameshift mutation in O-mannosyltransferase 1 gene (POMT1). alpha-Dystroglycan glycosylated epitope was not detected in muscle fibers and intramuscular peripheral nerves. Laminin alpha2 chain and perlecan were reduced in muscle fibers and well preserved in intramuscular peripheral nerves. The basal lamina in several muscle fibers showed discontinuities and detachment from the plasmalemma. Most nuclei, including myonuclei and satellite cell nuclei, showed detachment or complete absence of peripheral heterochromatin from the nuclear envelope. Apoptotic changes were detected in 3% of muscle fibers. The particular combination of basal lamina and nuclear changes may suggest that a complex pathogenetic mechanism, affecting several subcellular compartments, underlies the degenerative process in WWS muscle (literal)

Note

• ISI Web of Science (WOS) (literal)

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• 1Istituto per i Trapianti d'organo e l'Immunocitologia - CNR 2Neuromuscular Unit, Istituti Ortopedici Rizzoli, Bologna 3Laboratory of Biologia Cellulare e Microscopia Elettronica, Istituto Ortopedico Rizzoli, Bologna 4Department of Human Genetic, University Medical Center Nijmegen, Nijmegen, The Netherlands (literal)

Titolo

• Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation (literal)

Abstract

• Walker-Warburg syndrome (WWS) is an autosomal recessive disorder characterized by congenital muscular dystrophy, structural eye abnormalities and severe brain malformations. We performed an immunohistochemical and electron microscopy study of a muscle biopsy from a patient affected by WWS carrying a homozygous frameshift mutation in O-mannosyltransferase 1 gene (POMT1). alpha-Dystroglycan glycosylated epitope was not detected in muscle fibers and intramuscular peripheral nerves. Laminin alpha2 chain and perlecan were reduced in muscle fibers and well preserved in intramuscular peripheral nerves. The basal lamina in several muscle fibers showed discontinuities and detachment from the plasmalemma. Most nuclei, including myonuclei and satellite cell nuclei, showed detachment or complete absence of peripheral heterochromatin from the nuclear envelope. Apoptotic changes were detected in 3% of muscle fibers. The particular combination of basal lamina and nuclear changes may suggest that a complex pathogenetic mechanism, affecting several subcellular compartments, underlies the degenerative process in WWS muscle (literal)

Autore CNR

• STEFANO SQUARZONI (Persona)
• GIOVANNA LATTANZI (Persona)
• PATRIZIA SABATELLI (Unità di personale interno)

Insieme di parole chiave

• Keywords of "Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation" (Insieme di parole chiave)

Incoming links:

Autore CNR di

• PATRIZIA SABATELLI (Unità di personale interno)
• GIOVANNA LATTANZI (Persona)
• STEFANO SQUARZONI (Persona)

Insieme di parole chiave di

• Keywords of "Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation" (Insieme di parole chiave)