PMID: 8580725Nov 1, 1995Paper

A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis

Neuromuscular Disorders : NMD
Carina Wallgren-PetterssonI M Van Langen

Abstract

Clinical genetic evidence suggests the existence of an autosomal recessive form of congenital nemaline myopathy in addition to the autosomal dominant one(s). One mutation in an Australian kindred has been identified as causing an autosomal dominant form of the disease. This mutation in the alpha-tropomyosin gene TPM3 has previously been excluded as causing autosomal recessive nemaline myopathy. We searched systematically for genetic linkage to autosomal recessive nemaline myopathy (NEM2) by studying microsatellite marker alleles in seven multiplex families from Finland, Denmark, Wales, England and The Netherlands. Significant evidence of linkage was found to markers of chromosome 2q, the highest multipoint lod score value being 5.34 for the marker D2S151. Recombinant genotypes in affected individuals demarcate the the region in which the NEM2 gene is likely to reside as a 13 cM region between the markers D2S150 and D2S142. These results confirm the existence of at least one distinctive form of autosomal recessive nemaline myopathy and provide a basis for the identification of its gene.

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Citations

Oct 1, 1996·Neuromuscular Disorders : NMD·C Wallgren-Pettersson, N Laing
Mar 21, 2001·Neuromuscular Disorders : NMD·J Gurgel-GiannettiM Vainzof
Sep 5, 2002·Neuromuscular Disorders : NMD·Carina Wallgren-PetterssonKatarina Pelin
Jan 1, 1997·Neuromuscular Disorders : NMD·H H Goebel, I Warlo
Aug 26, 1998·Neuromuscular Disorders : NMD·C Wallgren-Pettersson
Aug 26, 1998·Neuromuscular Disorders : NMD·C A Sewry
Jan 5, 2000·Neuromuscular Disorders : NMD·C Wallgren-PetterssonA de la Chapelle
Mar 5, 2003·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Heinz JungbluthFrancesco Muntoni
Jul 15, 2003·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Carina Wallgren-Pettersson
Dec 1, 2004·Journal of Clinical Neuromuscular Disease·Masanori Igarashi
Oct 10, 1997·Journal of Medical Genetics·K N NorthC Wallgren-Pettersson
Mar 1, 1996·Journal of Neurology, Neurosurgery, and Psychiatry·F L Mastaglia, N G Laing
Mar 3, 1999·Proceedings of the National Academy of Sciences of the United States of America·K PelinC Wallgren-Pettersson
Dec 1, 2005·Ultrastructural Pathology·Carla FernandezJean-François Pellissier
Feb 11, 2005·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Carina Wallgren-Pettersson
Mar 12, 1999·Journal of Child Neurology·B L BanwellJ Vajsar
Apr 23, 2003·Muscle & Nerve·Hans H Goebel
Aug 19, 2006·Human Mutation·Vilma-Lotta LehtokariCarina Wallgren-Pettersson
Oct 1, 2009·Physiological Reviews·Aikaterini Kontrogianni-KonstantopoulosRobert J Bloch
Dec 11, 1999·Current Opinion in Neurology·N G Laing
May 3, 2014·Molecular Medicine Reports·Xi YinYan Ling Mao

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