Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin

Neuromuscular Disorders : NMD
C Wallgren-PetterssonENMC International Consortium On Nemaline Myopathy

Abstract

We present comparisons of the clinical pictures in a series of 60 patients with nemaline myopathy in whom mutations had been identified in the genes for nebulin or skeletal muscle alpha-actin. In the patients with nebulin mutations, the typical form of nemaline myopathy predominated, while severe, mild or intermediate forms were less frequent. Autosomal recessive inheritance had been verified or appeared likely in all nebulin cases. In the patients with actin mutations, the severe form of nemaline myopathy was the most common, but some had the mild or typical form, and a few showed other associated features such as intranuclear rods or actin accumulation. Most cases were sporadic, but in addition there were instances of both autosomal dominant and autosomal recessive inheritance, while two families showed mosaicism for dominant mutations. Although no specific phenotype was found to be associated with mutations in either gene, clinical and histological features together with pedigree data may be used in guiding mutation detection. Finding the causative mutation(s) determines the mode of inheritance and permits prenatal diagnosis if requested, but will not as such permit prognostication.

Citations

May 26, 2009·Langmuir : the ACS Journal of Surfaces and Colloids·Vamsi K YadavalliKuan Wang
Feb 28, 2013·European Journal of Human Genetics : EJHG·Mariacristina ScotoFrancesco Muntoni
Dec 1, 2010·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Siegfried LabeitHenk Granzier
Mar 20, 2009·American Journal of Physiology. Cell Physiology·David S GokhinRichard L Lieber
Oct 1, 2009·Physiological Reviews·Aikaterini Kontrogianni-KonstantopoulosRobert J Bloch
Sep 4, 2012·Indian Journal of Pediatrics·Seema KapoorVineeta Vijay Batra
May 27, 2009·The Journal of Cell Biology·Kristen J NowakNigel G Laing
Mar 12, 2016·Journal of Pediatric Rehabilitation Medicine·Laura Watne, Michele L Yang
Apr 24, 2016·Journal of Molecular Neuroscience : MN·Daniela PigaGiacomo Pietro Comi
Jul 1, 2010·Journal of Biomedicine & Biotechnology·Coen A C Ottenheijm, Henk Granzier
Dec 17, 2011·Seminars in Pediatric Neurology·Carina Wallgren-PetterssonNigel G Laing
Sep 2, 2006·Neuromuscular Disorders : NMD·William WallefeldNigel G Laing
Dec 7, 2016·Continuum : Lifelong Learning in Neurology·Jean K Mah, Jeffrey T Joseph
Mar 30, 2005·Journal of Child Neurology·Hans H Goebel
Jan 23, 2016·The Journal of Experimental Biology·Miensheng ChuChristopher T Pappas
Nov 13, 2015·Muscle & Nerve·Young-Eun ParkDae-Seong Kim
Aug 12, 2006·The EMBO Journal·Christian C WittSiegfried Labeit
Dec 26, 2006·Annals of Neurology·Kristen J NowakNigel G Laing
Jun 30, 2009·Human Mutation·Nigel G LaingKristen J Nowak
Jul 15, 2005·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·Nigel G Laing, Kristen J Nowak
Nov 13, 2004·Current Psychiatry Reports·Waguih William IshakJennifer G Gotto
Jun 1, 2016·American Journal of Medical Genetics. Part a·Mohammed Zain SeidahmedFowzan S Alkuraya
Sep 3, 2013·Current Opinion in Neurology·Norma B RomeroNigel F Clarke
Apr 6, 2019·The Journal of General Physiology·Srboljub M MijailovichHenk L Granzier
Jan 27, 2020·Journal of Muscle Research and Cell Motility·Michaela Yuen, Coen A C Ottenheijm
May 3, 2014·Molecular Medicine Reports·Xi YinYan Ling Mao
Jan 6, 2021·Neurology·Kimberly AmburgeyJames J Dowling
Mar 4, 2021·International Journal of Molecular Sciences·Joanna Gruszczynska-BiegalaHanna Strzelecka-Gołaszewska

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Proceedings of the National Academy of Sciences of the United States of America
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