Literature DB >> 15883334

LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype.

Marianne Schwartz1, Jens Michael Hertz, Marie Louise Sveen, John Vissing.   

Abstract

LGMD type 2I, caused by mutations in the fukutin-related protein, is a common form of LGMD. The phenotype resembles Duchenne/Becker muscular dystrophy. A point mutation, L276I has been found in all patients with LGMD2I studied so far. The authors screened for this mutation in 102 sporadic cases of Duchenne/Becker mutation-negative patients and found 13 patients with LGMD2I.

Entities:  

Mesh：

Substances：

Year:  2005        PMID： 15883334     DOI： 10.1212/01.WNL.0000157654.59374.E5

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  14 in total

1.  Clinical Utility Gene Card for: Becker muscular dystrophy.

Authors:  David Coote; Mark R Davis; Macarena Cabrera; Merrilee Needham; Nigel G Laing; Kristen J Nowak
Journal:  Eur J Hum Genet       Date:  2018-02-21       Impact factor: 4.246

2.  Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): case definition in surveillance for childhood-onset Duchenne/Becker muscular dystrophy.

Authors:  Katherine D Mathews; Chris Cunniff; Jiji R Kantamneni; Emma Ciafaloni; Timothy Miller; Dennis Matthews; Valerie Cwik; Charlotte Druschel; Lisa Miller; F John Meaney; John Sladky; Paul A Romitti
Journal:  J Child Neurol       Date:  2010-09       Impact factor: 1.987

Review 3.  Update on muscle disease.

Authors:  J Witherick; S Brady
Journal:  J Neurol       Date:  2018-04-18       Impact factor: 4.849

4.  Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.

Authors:  Hemakumar M Reddy; Sherifa A Hamed; Monkol Lek; Satomi Mitsuhashi; Elicia Estrella; Michael D Jones; Lane J Mahoney; Anna R Duncan; Kyung-Ah Cho; Daniel G Macarthur; Louis M Kunkel; Peter B Kang
Journal:  Muscle Nerve       Date:  2016-08-24       Impact factor: 3.217

5.  Diagnostic muscle biopsies in the era of genetics: the added value of myopathology in a selection of limb-girdle muscular dystrophy patients.

Authors:  Boel De Paepe; Elise Velghe; Linnea Salminen; Balint Toth; Pieter Olivier; Jan L De Bleecker
Journal:  Acta Neurol Belg       Date:  2021-01-05       Impact factor: 2.396

6.  Level of muscle regeneration in limb-girdle muscular dystrophy type 2I relates to genotype and clinical severity.

Authors:  Thomas O Krag; Simon Hauerslev; Marie Louise Sveen; Malene Schwartz; John Vissing
Journal:  Skelet Muscle       Date:  2011-10-05       Impact factor: 4.912

7.  Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies.

Authors:  Simon Hauerslev; Marie-Louise Sveen; Morten Duno; Corrado Angelini; John Vissing; Thomas O Krag
Journal:  BMC Musculoskelet Disord       Date:  2012-03-23       Impact factor: 2.362

8.  The outcomes and experience of pregnancy in limb girdle muscular dystrophy type R9.

Authors:  Eric M Libell; Noelle C Bowdler; Carrie M Stephan; Miriam Bridget Zimmerman; Amber M Gedlinske; Katherine D Mathews
Journal:  Muscle Nerve       Date:  2021-02-10       Impact factor: 3.852

Review 9.  Neo-epitope Peptides as Biomarkers of Disease Progression for Muscular Dystrophies and Other Myopathies.

Authors:  A Arvanitidis; K Henriksen; M A Karsdal; A Nedergaard
Journal:  J Neuromuscul Dis       Date:  2016-08-30

10.  LGMD2I in a North American population.

Authors:  Peter B Kang; Chris A Feener; Elicia Estrella; Marielle Thorne; Alexander J White; Basil T Darras; Anthony A Amato; Louis M Kunkel
Journal:  BMC Musculoskelet Disord       Date:  2007-11-24       Impact factor: 2.362
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.