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Literature DB >> 21220724

Myoglobinuria and muscle pain are common in patients with limb-girdle muscular dystrophy 2I.

K D Mathews¹, C M Stephan, K Laubenthal, T L Winder, D E Michele, S A Moore, K P Campbell.

Abstract

Entities: Disease Mutation Species

Mesh：

Substances：

Year: 2011 PMID： 21220724 PMCID： PMC3030231 DOI： 10.1212/WNL.0b013e3182061ad4

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

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7 in total

1. High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark.

Authors: Marie-Louise Sveen; Marianne Schwartz; John Vissing
Journal: Ann Neurol Date: 2006-05 Impact factor: 10.422

2. 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

3. 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

4. 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

5. Phenotypic spectrum associated with mutations in the fukutin-related protein gene.

Authors: Eugenio Mercuri; Martin Brockington; Volker Straub; Susana Quijano-Roy; Yeliz Yuva; Ralf Herrmann; Susan C Brown; Silvia Torelli; Victor Dubowitz; Derek J Blake; Norma B Romero; Brigitte Estournet; Caroline A Sewry; Pascale Guicheney; Thomas Voit; Francesco Muntoni
Journal: Ann Neurol Date: 2003-04 Impact factor: 10.422

6. The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations.

Authors: Patrick Frosk; Cheryl R Greenberg; Alysa A P Tennese; Ryan Lamont; Edward Nylen; Cheryl Hirst; Danielle Frappier; Nicole M Roslin; Michaela Zaik; Kate Bushby; Volker Straub; Mayana Zatz; Flavia de Paula; Kenneth Morgan; T Mary Fujiwara; Klaus Wrogemann
Journal: Hum Mutat Date: 2005-01 Impact factor: 4.878

7. Clinical-molecular correlation in 104 mild X-linked muscular dystrophy patients: characterization of sub-clinical phenotypes.

Authors: C Angelini; M Fanin; E Pegoraro; M P Freda; M Cadaldini; F Martinello
Journal: Neuromuscul Disord Date: 1994-07 Impact factor: 4.296

7 in total

9 in total

1. FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies.

Authors: Xiaona Fu; Haipo Yang; Cuijie Wei; Hui Jiao; Shuo Wang; Yanling Yang; Chunxi Han; Xiru Wu; Hui Xiong
Journal: J Hum Genet Date: 2016-07-21 Impact factor: 3.172

Review 2. A "crush" course on rhabdomyolysis: risk stratification and clinical management update for the perioperative clinician.

Authors: Devan R Cote; Eva Fuentes; Ali H Elsayes; Jonathan J Ross; Sadeq A Quraishi
Journal: J Anesth Date: 2020-05-18 Impact factor: 2.078

Myoglobinuria and muscle pain are common in patients with limb-girdle muscular dystrophy 2I.

1. High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark.

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

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

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

5. Phenotypic spectrum associated with mutations in the fukutin-related protein gene.

6. The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations.

7. Clinical-molecular correlation in 104 mild X-linked muscular dystrophy patients: characterization of sub-clinical phenotypes.

1. FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies.

Review 2. A "crush" course on rhabdomyolysis: risk stratification and clinical management update for the perioperative clinician.

3. Childhood Activity on Progression in Limb Girdle Muscular Dystrophy 2I.

4. Mutations in GMPPB Presenting with Pseudometabolic Myopathy.

5. Diagnostic delay in patients with FKRP-related muscular dystrophy.

Review 6. Rhabdomyolysis: a genetic perspective.

7. The Classification, Natural History and Treatment of the Limb Girdle Muscular Dystrophies.

8. Limb girdle muscular dystrophy type 2B masquerading as inflammatory myopathy: case report.

9. A novel noncoding FKRP mutation in early onset limb-girdle muscular dystrophy.