Limb girdle muscular dystrophy type 2I: No correlation between clinical severity, histopathology and glycosylated α-dystroglycan levels in patients homozygous for common FKRP mutation-Reference-Cited by-同舟云学术

Limb girdle muscular dystrophy type 2I: No correlation between clinical severity, histopathology and glycosylated α-dystroglycan levels in patients homozygous for common FKRP mutation

Published:2017-07 Issue:7 Volume:27 Page:619-626
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Alhamidi Maisoon,Brox Vigdis,Stensland Eva,Liset Merete,Lindal Sigurd,Nilssen Øivind

Funder

Helse Nord

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference29 articles.

1. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C;Brockington;Hum Mol Genet,2001

3. LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype;Schwartz;Neurology,2005

4. Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I;Boito;Arch Neurol,2005

5. High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark;Sveen;Ann Neurol,2006

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1. Validation of a novel western blot assay to monitor patterns and levels of alpha dystroglycan in skeletal muscle of patients with limb girdle muscular dystrophies;Journal of Muscle Research and Cell Motility;2024-04-18

2. Break Down of the Complexity and Inconsistency Between Levels of Matriglycan and Disease Phenotype in FKRP-Related Dystroglycanopathies: A Review and Model of Interpretation;Journal of Neuromuscular Diseases;2024-03-05

3. Pediatric Neuromuscular Diseases;Pediatric Neurology;2023-12

4. Patterns of Clinical Progression Among Patients With Autosomal Recessive Limb-Girdle Muscular Dystrophy: A Systematic Review;Journal of Clinical Neuromuscular Disease;2023-12

5. CRISPR-Cas9 KO Cell Line Generation and Development of a Cell-Based Potency Assay for rAAV-FKRP Gene Therapy;Cells;2023-10-12