Literature DB >> 25037092

Distal myopathies.

Mazen M Dimachkie1, Richard J Barohn2.   

Abstract

In this article, distal myopathy syndromes are discussed. A discussion of the more traditional distal myopathies is followed by discussion of the myofibrillar myopathies. Other clinically and genetically distinctive distal myopathy syndromes usually based on single or smaller family cohorts are reviewed. Other neuromuscular disorders that are important to recognize are also considered, because they show prominent distal limb weakness.
Copyright © 2014 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Distal myopathy; Laing myopathy; Markesbery-Griggs myopathy; Myofibrillar myopathy; Myoshi myopathy; Nonaka myopathy; Udd distal myopathy; Welander myopathy

Mesh：

Substances：

Year:  2014        PMID： 25037092      PMCID： PMC4109660          DOI： 10.1016/j.ncl.2014.04.004

Source DB:  PubMed          Journal:  Neurol Clin        ISSN： 0733-8619            Impact factor:   3.806


  142 in total

1.  An autosomal dominant early adult-onset distal muscular dystrophy.

Authors:  F Zimprich; A Djamshidian; J A Hainfellner; H Budka; J Zeitlhofer
Journal:  Muscle Nerve       Date:  2000-12       Impact factor: 3.217

2.  A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation.

Authors:  Sabine Krause; Beate Schlotter-Weigel; Maggie C Walter; Hossein Najmabadi; Heinz Wiendl; Josef Müller-Höcker; Wolfgang Müller-Felber; Dieter Pongratz; Hanns Lochmüller
Journal:  Neuromuscul Disord       Date:  2003-12       Impact factor: 4.296

3.  Late distal myopathy. Report of a case.

Authors:  H S BARROWS; L P DUEMLER
Journal:  Neurology       Date:  1962-08       Impact factor: 9.910

4.  Computerized tomography and magnetic resonance muscle imaging in Miyoshi's myopathy.

Authors:  G Meola; V Sansone; G Rotondo; A Jabbour
Journal:  Muscle Nerve       Date:  1996-11       Impact factor: 3.217

5.  Late onset hereditary distal myopathy.

Authors:  W R Markesbery; R C Griggs; R P Leach; L W Lapham
Journal:  Neurology       Date:  1974-02       Impact factor: 9.910

6.  Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy.

Authors:  C Matsuda; M Aoki; Y K Hayashi; M F Ho; K Arahata; R H Brown
Journal:  Neurology       Date:  1999-09-22       Impact factor: 9.910

7.  Genetic linkage of Welander distal myopathy to chromosome 2p13.

Authors:  G Ahlberg; D von Tell; K Borg; L Edström; M Anvret
Journal:  Ann Neurol       Date:  1999-09       Impact factor: 10.422

8.  Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.

Authors:  Peter Hackman; Anna Vihola; Henna Haravuori; Sylvie Marchand; Jaakko Sarparanta; Jerome De Seze; Siegfried Labeit; Christian Witt; Leena Peltonen; Isabelle Richard; Bjarne Udd
Journal:  Am J Hum Genet       Date:  2002-07-26       Impact factor: 11.025

9.  Distal myopathy: electron microscopic and histochemical studies.

Authors:  W R Markesbery; R C Griggs; B Herr
Journal:  Neurology       Date:  1977-08       Impact factor: 9.910

10.  Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene.

Authors:  K G Claeys; M Fardeau; R Schröder; T Suominen; K Tolksdorf; A Behin; O Dubourg; B Eymard; T Maisonobe; T Stojkovic; G Faulkner; P Richard; P Vicart; B Udd; T Voit; G Stoltenburg
Journal:  Neuromuscul Disord       Date:  2008-07-23       Impact factor: 4.296
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  7 in total

1.  Slowly progressive distal muscle weakness: neuropathy or myopathy?

Authors:  Yafit Nahari; Ahmed Abbas; Elizabeth Curtis; Saiju Jacob
Journal:  BMJ Case Rep       Date:  2019-04-03

2.  GNE missense mutation in recessive familial amyotrophic lateral sclerosis.

Authors:  Çiğdem Köroğlu; Rezzak Yılmaz; Mine Hayriye Sorgun; Seyhun Solakoğlu; Özden Şener
Journal:  Neurogenetics       Date:  2017-10-31       Impact factor: 2.660

3.  Non-linear growth trends of toe flexor muscle strength among children, adolescents, and young adults: a cross-sectional study.

Authors:  Noriteru Morita; Junichiro Yamauchi; Ryosuke Fukuoka; Toshiyuki Kurihara; Mitsuo Otsuka; Tomoyasu Okuda; Noriyuki Shide; Isao Kambayashi; Hisashi Shinkaiya
Journal:  Eur J Appl Physiol       Date:  2018-03-03       Impact factor: 3.078

4.  Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies.

Authors:  Pablo Brea Winckler; Bruna Cristine Chwal; Marco Antonnio Rocha Dos Santos; Daniela Burguêz; Marcia Polese-Bonatto; Edmar Zanoteli; Marina Siebert; Filippo Pinto E Vairo; Márcia Lorena Fagundes Chaves; Jonas Alex Morales Saute
Journal:  Neurol Sci       Date:  2022-02-17       Impact factor: 3.307

5.  Whole Exome Sequencing Identifies Atypical Welander Distal Myopathy in Patient.

Authors:  Jennifer Gass; Patrick Blackburn; Jessica Jackson; Kimberly Harris; Duygu Selcen; Elliot Dimberg; Paldeep Atwal
Journal:  J Clin Neuromuscul Dis       Date:  2017-03

6.  Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.

Authors:  Ivana Babić Božović; Aleš Maver; Lea Leonardis; Marija Meznaric; Damjan Osredkar; Borut Peterlin
Journal:  PLoS One       Date:  2021-06-09       Impact factor: 3.240

Review 7.  Diagnosis of Cardiac Abnormalities in Muscular Dystrophies.

Authors:  Elisabeta Bădilă; Iulia Ioana Lungu; Alexandru Mihai Grumezescu; Alexandru Scafa Udriște
Journal:  Medicina (Kaunas)       Date:  2021-05-12       Impact factor: 2.430
  7 in total

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