Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy. (Articolo in rivista)

Type

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

Label

• Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy. (Articolo in rivista) (literal)

Anno

• 2005-01-01T00:00:00+01:00 (literal)

Alternative label

• Benedetti S, Bertini E, Iannaccone S, Angelini C, Trisciani M, Toniolo D, Sferrazza B, Carrera P, Comi G, Ferrari M, Quattrini A, Previtali SC. (2005)
  Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy.
  
  (literal)

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

• Benedetti S, Bertini E, Iannaccone S, Angelini C, Trisciani M, Toniolo D, Sferrazza B, Carrera P, Comi G, Ferrari M, Quattrini A, Previtali SC. (literal)

Pagina inizio

• 1019 (literal)

Pagina fine

• 1021 (literal)

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

• 76 (literal)

Note

• ISI Web of Science (WOS) (literal)

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

• Lab. Clinical Molecular Biology, Diagnostica e Ricerca San Raffaele, Milano, Italy; Unit of Molecular Medicine, Ospedale Bambino Gesù, Roma, Italy; Dep. Neurology, IRCCS San Raffaele Scientific Institute, Milano, Italy; Dep. Neurosciences, University of Padova, Padova, Italy; Unit for Genomics for Human Disease Diagnosis, IRCCS San Raffaele Scientific Institute, Milano, Italy; Dibit, IRCCS San Raffaele Scientific Institute, Milano, Italy (literal)

Titolo

• Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy. (literal)

Abstract

• The coexistence of neurogenic and myogenic features in scapuloperoneal syndrome is rarely ascribed to a single gene. Defects in the nuclear envelope protein lamin A/C, encoded by the LMNA gene, have been shown to be associated with a variety of disorders affecting mainly the muscular and adipose tissues and, more recently, with autosomal recessive Charcot-Marie-Tooth type 2 neuropathy. This report is about a patient presenting features of myopathy and neuropathy due to a dominant LMNA mutation, suggesting that the peripheral nerve might be affected in primary LMNA myopathy. Our observations further support the marked intrafamilial and interfamilial phenotypic heterogeneity associated with lamin A/C defects. (literal)

Prodotto di

• Institute of molecular genetics (IGM) (Istituto)
• Malattie genetiche dovute a difetti nella riparazione del DNA che predispongono ai tumori. Analisi genetica funzionale dei fattori importanti per l'integrità del genoma. (ME.P05.005.001) (Modulo)

Autore CNR

• DANIELA TONIOLO (Persona)

Insieme di parole chiave

• Keywords of "Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy." (Insieme di parole chiave)

Incoming links:

Prodotto

• Institute of molecular genetics (IGM) (Istituto)
• Malattie genetiche dovute a difetti nella riparazione del DNA che predispongono ai tumori. Analisi genetica funzionale dei fattori importanti per l'integrità del genoma. (ME.P05.005.001) (Modulo)

Autore CNR di

• DANIELA TONIOLO (Persona)

Insieme di parole chiave di

• Keywords of "Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy." (Insieme di parole chiave)