Literature DB >> 16143867

Limb girdle muscular dystrophy type 2I caused by a novel missense mutation in the FKRP gene presenting as acute virus-associated myositis in infancy.

Maja von der Hagen1, Angela M Kaindl, Kathrin Koehler, Petra Mitzscherling, Hans-Jürgen Häusler, Gisela Stoltenburg-Didinger, Angela Huebner.   

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Year:  2005        PMID： 16143867     DOI： 10.1007/s00431-005-1752-6

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  5 in total

1.  FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients.

Authors:  M C Walter; J A Petersen; R Stucka; D Fischer; R Schröder; M Vorgerd; A Schroers; H Schreiber; C O Hanemann; U Knirsch; A Rosenbohm; A Huebner; N Barisic; R Horvath; S Komoly; P Reilich; W Müller-Felber; D Pongratz; J S Müller; E A Auerswald; H Lochmüller
Journal:  J Med Genet       Date:  2004-04       Impact factor: 6.318

2.  Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.

Authors:  M Brockington; Y Yuva; P Prandini; S C Brown; S Torelli; M A Benson; R Herrmann; L V Anderson; R Bashir; J M Burgunder; S Fallet; N Romero; M Fardeau; V Straub; G Storey; C Pollitt; I Richard; C A Sewry; K Bushby; T Voit; D J Blake; F Muntoni
Journal:  Hum Mol Genet       Date:  2001-12-01       Impact factor: 6.150

3.  The phenotype of limb-girdle muscular dystrophy type 2I.

Authors:  M Poppe; L Cree; J Bourke; M Eagle; L V B Anderson; D Birchall; M Brockington; M Buddles; M Busby; F Muntoni; A Wills; K Bushby
Journal:  Neurology       Date:  2003-04-22       Impact factor: 9.910

4.  Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I.

Authors:  Maja Poppe; John Bourke; Michelle Eagle; Patrick Frosk; Klaus Wrogemann; Cheryl Greenberg; Francesco Muntoni; Thomas Voit; Volker Straub; David Hilton-Jones; Cheerag Shirodaria; Kate Bushby
Journal:  Ann Neurol       Date:  2004-11       Impact factor: 10.422

Review 5.  Limb-girdle muscular dystrophies--from genetics to molecular pathology.

Authors:  S H Laval; K M D Bushby
Journal:  Neuropathol Appl Neurobiol       Date:  2004-04       Impact factor: 8.090
  5 in total
  2 in total

1.  Progression to Loss of Ambulation Among Patients with Autosomal Recessive Limb-girdle Muscular Dystrophy: A Systematic Review.

Authors:  Ivana F Audhya; Antoinette Cheung; Shelagh M Szabo; Emma Flint; Conrad C Weihl; Katherine L Gooch
Journal:  J Neuromuscul Dis       Date:  2022

2.  Illness-associated muscle weakness in dystroglycanopathies.

Authors:  Courtney R Carlson; Steven D McGaughey; Jamie M Eskuri; Carrie M Stephan; M Bridget Zimmerman; Katherine D Mathews
Journal:  Neurology       Date:  2017-11-03       Impact factor: 9.910
  2 in total

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