Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.
about
Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2ALimb-girdle muscular dystrophies: where next after six decades from the first proposal (Review).Dynamic distribution of muscle-specific calpain in mice has a key role in physical-stress adaptation and is impaired in muscular dystrophy.Limb-girdle muscular dystrophy subtypes: First-reported cohort from northeastern China.From proteins to genes: immunoanalysis in the diagnosis of muscular dystrophies.Analysis of calpain-3 protein in muscle biopsies of different muscular dystrophies from India.Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing.Natural history of LGMD2A for delineating outcome measures in clinical trialsMitochondrial abnormalities, energy deficit and oxidative stress are features of calpain 3 deficiency in skeletal muscleTherapeutic possibilities in the autosomal recessive limb-girdle muscular dystrophies.Molecular diagnosis of muscular dystrophies, focused on limb girdle muscular dystrophies.Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls.Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.Evaluation of heart involvement in calpainopathy (LGMD2A) using cardiovascular magnetic resonance.Transcriptional and translational effects of intronic CAPN3 gene mutations.How to tackle the diagnosis of limb-girdle muscular dystrophy 2ACAPN3 mRNA processing alteration caused by splicing mutation associated with novel genomic rearrangement of Alu elements.Ancestral founder mutations in calpain-3 in the Indian Agarwal community: historical, clinical, and molecular perspective.Limb-girdle weakness in a marfanoid man: distinguishing calpainopathy from Becker's muscular dystrophy.Left ventricular deformation abnormalities in a patient with calpainopathy-a case from the three-dimensional speckle-tracking echocardiographic MAGYAR-Path Study.The relative frequency of common neuromuscular diagnoses in a reference center.Dominant LGMD2A: alternative diagnosis or hidden digenism?A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.
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Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on December 2007
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.
@en
Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.
@nl
type
label
Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.
@en
Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.
@nl
prefLabel
Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.
@en
Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.
@nl
P2093
P356
P1433
P1476
Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.
@en
P2093
Emma J Groen
Judith Hudson
Katharine M D Bushby
Louise V Anderson
Michelle Eagle
Richard Charlton
Rita Barresi
P304
P356
10.1093/BRAIN/AWM259
P407
P577
2007-12-01T00:00:00Z