Literature DB >> 8114789

Dominant congenital benign spinal muscular atrophy.

C J Frijns1, J Van Deutekom, R R Frants, F G Jennekens.   

Abstract

The affected members of the family described in this article exhibit congenital nonprogressive atrophy and weakness of lower limb muscles in association with contractures. Clinical and laboratory findings support a dominant lower motor neuron disorder. DNA analysis excluded linkage of the disease with SMA markers on the long arm of chromosome 5. The condition must be differentiated from congenital and infantile SMA, from "arthrogryposis multiplex congenita, distal type," and from non hereditary types of congenital arthrogryposis.

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Year:  1994        PMID: 8114789     DOI: 10.1002/mus.880170210

Source DB:  PubMed          Journal:  Muscle Nerve        ISSN: 0148-639X            Impact factor:   3.217


  7 in total

1.  [Motor neuron diseases].

Authors:  S Petri; T Meyer
Journal:  Nervenarzt       Date:  2011-06       Impact factor: 1.214

2.  Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance.

Authors:  Kristien Peeters; Ivan Litvinenko; Bob Asselbergh; Leonardo Almeida-Souza; Teodora Chamova; Thomas Geuens; Elke Ydens; Magdalena Zimoń; Joy Irobi; Els De Vriendt; Vicky De Winter; Tinne Ooms; Vincent Timmerman; Ivailo Tournev; Albena Jordanova
Journal:  Am J Hum Genet       Date:  2013-05-09       Impact factor: 11.025

Review 3.  Unraveling the genetics of distal hereditary motor neuronopathies.

Authors:  Joy Irobi; Ines Dierick; Albena Jordanova; Kristl G Claeys; Peter De Jonghe; Vincent Timmerman
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

4.  Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32.

Authors:  M B Harms; P Allred; R Gardner; J A Fernandes Filho; J Florence; A Pestronk; M Al-Lozi; R H Baloh
Journal:  Neurology       Date:  2010-08-10       Impact factor: 9.910

5.  Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy.

Authors:  Kornelia Neveling; Lilian A Martinez-Carrera; Irmgard Hölker; Angelien Heister; Aad Verrips; Seyyed Mohsen Hosseini-Barkooie; Christian Gilissen; Sascha Vermeer; Maartje Pennings; Rowdy Meijer; Margot te Riele; Catharina J M Frijns; Oksana Suchowersky; Linda MacLaren; Sabine Rudnik-Schöneborn; Richard J Sinke; Klaus Zerres; R Brian Lowry; Henny H Lemmink; Lutz Garbes; Joris A Veltman; Helenius J Schelhaas; Hans Scheffer; Brunhilde Wirth
Journal:  Am J Hum Genet       Date:  2013-05-09       Impact factor: 11.025

6.  Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.

Authors:  Mariacristina Scoto; Alexander M Rossor; Matthew B Harms; Sebahattin Cirak; Mattia Calissano; Stephanie Robb; Adnan Y Manzur; Amaia Martínez Arroyo; Aida Rodriguez Sanz; Sahar Mansour; Penny Fallon; Irene Hadjikoumi; Andrea Klein; Michele Yang; Marianne De Visser; W C G Truus Overweg-Plandsoen; Frank Baas; J Paul Taylor; Michael Benatar; Anne M Connolly; Muhammad T Al-Lozi; John Nixon; Christian G E L de Goede; A Reghan Foley; Catherine Mcwilliam; Matthew Pitt; Caroline Sewry; Rahul Phadke; Majid Hafezparast; W K Kling Chong; Eugenio Mercuri; Robert H Baloh; Mary M Reilly; Francesco Muntoni
Journal:  Neurology       Date:  2015-01-21       Impact factor: 9.910

Review 7.  Dominant spinal muscular atrophy is caused by mutations in BICD2, an important golgin protein.

Authors:  Lilian A Martinez-Carrera; Brunhilde Wirth
Journal:  Front Neurosci       Date:  2015-11-05       Impact factor: 4.677

  7 in total

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