about
A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates.Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy.Exercise-induced alterations and loss of sarcomeric M-line organization in the diaphragm muscle of obscurin knockout mice.Nexilin Is a New Component of Junctional Membrane Complexes Required for Cardiac T-Tubule Formation
P50
description
investigador
@es
researcher
@en
name
Simone Spinozzi
@en
type
label
Simone Spinozzi
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prefLabel
Simone Spinozzi
@en
P31
P496
0000-0001-8593-5558