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Article

Protein profiling reveals energy metabolism and cytoskeletal protein alterations in LMNA mutation carriers.

Biochimica et biophysica acta - 1 Jun 2012

Magagnotti Cinzia, Bachi Angela, Zerbini Gianpaolo, Fattore Elena, Fermo Isabella, Riba Michela, Previtali Stefano C, Ferrari Maurizio, Andolfo Annapaola, Benedetti Sara

Abstract excerpt

Nuclear envelope-related muscular dystrophies, in particular those referred to as laminopathies, are relatively novel and unclear diseases, also considering the increasing number of mutations identified so far in genes of the nuclear envelope. As regard LMNA gene, only tentative relations between phenotype, type and localization of the mutations have been established in striated muscle diseases, while...

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Share to Energy Metabolism
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscular Dystrophy, Emery-Dreifuss

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Source

Identifiers

PMID: 22326558
DOI: 10.1016/j.bbadis.2012.01.014

Genes

LMNA

Provenance

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