Publications by authors named "Vilma-Lotta Lehtokari"

29Publications

Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene.

Neuromuscul Disord 2019 02 20;29(2):97-107. Epub 2018 Dec 20.

The Folkhälsan Research Center, Helsinki, Finland and Medicum, University of Helsinki, Helsinki, Finland; Neuromuscular Research Center, Tampere University and University Hospital, Tampere, Finland; Department of Neurology, Vaasa Central Hospital, Vaasa, Finland.

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February 2019

A nebulin super-repeat panel reveals stronger actin binding toward the ends of the super-repeat region.

Muscle Nerve 2019 01 13;59(1):116-121. Epub 2018 Nov 13.

The Folkhälsan Institute of Genetics and Department of Medical and Clinical Genetics, Biomedicum Helsinki, University of Helsinki, P.O. Box 63, 00014, Helsinki, Finland.

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January 2019

An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders.

J Neuromuscul Dis 2018;5(3):307-314

The Folkhälsan Institute of Genetics and the Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Finland.

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November 2018

Clinically variable nemaline myopathy in a three-generation family caused by mutation of the skeletal muscle alpha-actin gene.

Neuromuscul Disord 2018 04 25;28(4):323-326. Epub 2017 Dec 25.

The Folkhälsan Institute of Genetics and the Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.

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April 2018

Other specified and unspecified feeding or eating disorders among women in the community.

Int J Eat Disord 2016 Nov 21;49(11):1010-1017. Epub 2016 Jul 21.

Department of Public Health, University of Helsinki, Finland.

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November 2016

Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related "core-rod" congenital myopathy.

Eur J Med Genet 2015 Oct 25;58(10):556-61. Epub 2015 Sep 25.

Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GH Pitié-Salpêtrière, 47 Boulevard de l'hôpital, 75013 Paris, France; Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France. Electronic address:

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October 2015

A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array.

Eur J Hum Genet 2016 Apr 22;24(4):574-80. Epub 2015 Jul 22.

The Folkhälsan Institute of Genetics and The Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.

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April 2016

A commentary on identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness.

J Hum Genet 2015 Mar 15;60(3):161-2. Epub 2015 Jan 15.

1] The Folkhälsan Institute of Genetics, Biomedicum Helsinki, Helsinki, Finland [2] Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.

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March 2015

Mutations in the nebulin gene in a child with nemaline (rod) myopathy.

Indian J Pediatr 2013 Aug 2;80(8):691-3. Epub 2012 Sep 2.

Division of Genetics, Department of Pediatrics, Maulana Azad Medical College, New Delhi 110002, India.

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August 2013

Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy.

Skelet Muscle 2011 Jun 20;1(1):23. Epub 2011 Jun 20.

Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Harvard Medical School, 300 Longwood Avenue, CLSB 15026, Boston, MA 02115, USA.

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June 2011