Corpus ID: 2320113

Genetic basis of limb-girdle muscular dystrophies: the 2014 update

@article{Nigro2014GeneticBO,
  title={Genetic basis of limb-girdle muscular dystrophies: the 2014 update},
  author={Vincenzo Nigro and Marco Savarese},
  journal={Acta Myologica},
  year={2014},
  volume={33},
  pages={1 - 12}
}
Limb-girdle muscular dystrophies (LGMD) are a highly heterogeneous group of muscle disorders, which first affect the voluntary muscles of the hip and shoulder areas. The definition is highly descriptive and less ambiguous by exclusion: non-Xlinked, non-FSH, non-myotonic, non-distal, nonsyndromic, and non-congenital. At present, the genetic classification is becoming too complex, since the acronym LGMD has also been used for a number of other myopathic disorders with overlapping phenotypes… Expand
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212 Citations
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212 Citations

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Limb-girdle muscular dystrophies — international collaborations for translational research
TLDR
The international collaborations that are addressing translational research issues, and the lessons learned from large-scale LGMD sequencing programmes are reviewed. Expand
Rare disease clinical trials
TLDR
The limb-girdle muscular dystrophies encompass a collection of genetic muscle diseases with proximal-predominant weakness of the limbs that are quite rare, each with minimum prevalence estimates of 0.01–0.60 cases per 100,000 persons. Expand
The Growing Family of Limb-Girdle Muscular Dystrophies: Old and Newly Identified Members
TLDR
This review summarizes the main aspects of positive and differential diagnosis in LGMD and describes the main clinical pictures associated with different genes and mutations. Expand
Limb girdle muscular dystrophies: clinical-genetical diagnostic update and prospects for therapy
TLDR
The instrumental, muscle imaging, and laboratory exams commonly used to assess final diagnosis are described, as well as recent genetic techniques and new diagnostic procedures, i.e. next generation sequencing and whole exome sequencing. Expand
Dismantling Limb-Girdle Muscular Dystrophy: The Role of Whole-Exome Sequencing.
TLDR
The clinical approach to patients with suspected myopathy includes obtaining a history of symptom evolution, comprehensive pedigree analysis, evaluation of the distribution of weakness, and identification of extramuscular manifestations, which leads to confirmatory genetic testing. Expand
The genetic basis of undiagnosed muscular dystrophies and myopathies
TLDR
A large DNA study of patients with undiagnosed myopathy is an example of the ongoing revolution in molecular diagnostics, highlighting the advantages in using NGS as a first-tier approach for heterogeneous genetic conditions. Expand
Where do we stand in trial readiness for autosomal recessive limb girdle muscular dystrophies?
TLDR
The current status of determinants of successful drug development programmes for LGMD2 are reviewed, and the challenges of translating promising therapeutic strategies into effective and accessible treatments for patients are reviewed. Expand
The Classification, Natural History and Treatment of the Limb Girdle Muscular Dystrophies
TLDR
Advances in the application of new omics technologies and the generation of large-scale biomedical data will help to better understand disease mechanisms in LGMD and should ultimately help to accelerate the development of novel and more effective therapeutic approaches. Expand
Prevalence, pathological mechanisms, and genetic basis of limb‐girdle muscular dystrophies: A review
TLDR
A comprehensive review that integrates LGMD clinical manifestations, prevalence, and some pathological mechanisms involved in LGMDs is provided. Expand
An Overview of the Other Muscular Dystrophies: Underlying Genetic and Molecular Mechanisms
TLDR
This chapter aims to provide an overview of the myotonic dystrophies, limb-girdle muscular dystophies, and congenital muscular Dystrophy, as well as facioscapulohumeral dystrophy. Expand
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References

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TLDR
The present review is devoted to outline the present advancements in the molecular bases of autosomal recessive LGMD. Expand
Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches.
TLDR
The genetic diagnosis of LGMD from the present home-made algorithms will move toward high-throughput diagnostic strategies based on next-generation sequencing (NGS) technologies, and new powerful drug approaches based on recent pathogenetic findings will be pushed to clinical trials. Expand
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin
TLDR
It is found that mutations in the telethonin gene cause LGMD 2G, identifying a new molecular mechanism for AR LGMD. Expand
A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.
TLDR
It is suggested that mutations in ANO5 represent a relatively common cause of adult onset muscular dystrophy with high serum creatine kinase and that mutation screening, particularly of the common mutation c.191dupA, should be an early step in the diagnostic algorithm of adult limb-girdle muscular dystrophies patients. Expand
Myotilin is mutated in limb girdle muscular dystrophy 1A.
TLDR
A mutation in the myotilin gene in a large North American family of German descent expressing an autosomal dominant form of limb girdle muscular dystrophy (LGMD1A) is identified, predicting the conversion of residue 57 from threonine to isoleucine to C450T missense mutation. Expand
A new locus on 3p23–p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H
TLDR
Clinical findings showed variable expressivity in terms of age at onset and disease severity, and two muscle biopsies showed morphological findings compatible with MD associated with subsarcolemmal accumulation of mitochondria and the presence of multiple mitochondrial DNA deletions. Expand
Myopathies caused by homozygous titin mutations: limb-girdle muscular dystrophy 2J and variations of phenotype
TLDR
A French family with an autosomal-dominant late-onset distal myopathy of the tibial muscular dystrophy phenotype segregating in several members of the family was described and the early phenotype in a newly identified young patient with homozygous Finnish C-terminal titin mutation (FINmaj) was detailed. Expand
A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies
TLDR
Investigating a consanguineous family with LGMD2 with two affected individuals reveals that autosomal recessive mutations in DES cause LG MD2 phenotype without features of myofibrillar myopathy. Expand
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TLDR
Large variability of phenotypic expression caused by just one mutation, the Finnish FINmaj, suggests that no certain phenotype of myopathy/dystrophy can be excluded from being caused by mutated titin. Expand
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TLDR
The data suggest that fukutin mutations occur outside Japan and can be associated with much milder phenotypes than Fukuyama congenital muscular dystrophy, which significantly expand the spectrum of phenotypes associated with fukUTin mutations to include this novel form of limb girdle muscular dystroke that is proposed to name LGMD2L. Expand
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