PMID: 11335118May 4, 2001Paper

Developmental expression of myotilin, a gene mutated in limb-girdle muscular dystrophy type 1A

Mechanisms of Development
Luca MologniO Carpén

Abstract

We analyzed developmental expression of myotilin, a novel sarcomeric component mutated in limb-girdle muscular dystrophy 1A (LGMD1A). In situ hybridization and immunostaining of embryonic mouse tissues revealed expression of myotilin initially (E9-10) in heart, somites and neuroepithelium. At E13 myotilin was expressed in a variety of tissues, including the nervous system, lung, liver and kidney, but upon organ differentiation expression became more restricted. The level of expression during early development is comparable between mouse and human, indicating that the mouse may provide a model for further studying the functions of myotilin and the pathogenesis of LGMD1A.

Citations

Mar 9, 2005·Biochemical and Biophysical Research Communications·Luca MologniOlli Carpén
Aug 6, 2003·Neuromuscular Disorders : NMD·R SchröderO Carpén
Jan 20, 2005·Histopathology·D S Tews, H H Goebel
May 2, 2014·Molecular Therapy. Nucleic Acids·Jian LiuScott Q Harper
Jan 24, 2009·Journal of Molecular and Cellular Cardiology·Tania ZagliaSimonetta Ausoni
May 11, 2006·Neuromuscular Disorders : NMD·Dirk FischerRolf Schröder
Aug 16, 2014·The Anatomical Record : Advances in Integrative Anatomy and Evolutionary Biology·Dipak K DubeJoseph W Sanger
Jul 4, 2019·Journal of Molecular Neuroscience : MN·Jeremy McCallum-LoudeacMegan J Wilson

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