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A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H.

Published on Jun 1, 2010in European Journal of Human Genetics 3.65
· DOI :10.1038/ejhg.2009.235
Luigi Bisceglia24
Estimated H-index: 24
(Casa Sollievo della Sofferenza),
Stefano Zoccolella25
Estimated H-index: 25
+ 11 AuthorsVittoria Petruzzella26
Estimated H-index: 26
Cite
Abstract
Limb-girdle muscular dystrophies (LGMDs) are a genetically heterogeneous group of neuromuscular disorders with a selective or predominant involvement of shoulder and pelvic girdles. We clinically examined 19 members in a four-generation Italian family with autosomal-dominant LGMD. A total of 11 subjects were affected. Clinical findings showed variable expressivity in terms of age at onset and disease severity. Five subjects presented with a slowly progressive proximal muscle weakness, in both upper and lower limbs, with onset during the fourth–fifth decade of life, which fulfilled the consensus diagnostic criteria for LGMD. Earlier onset of the disease was observed in a group of patients presenting with muscle weakness and/or calf hypertrophy, and/or occasionally high CK and lactate serum levels. Two muscle biopsies showed morphological findings compatible with MD associated with subsarcolemmal accumulation of mitochondria and the presence of multiple mitochondrial DNA deletions. A genome-wide scan performed using microsatellite markers mapped the disease on chromosome 3p23–p25.1 locus in a 25-cM region between markers D3S1263 and D3S3685. The highest two-point LOD score was 3.26 (θ=0) at marker D3S1286 and D3S3613, whereas non-parametric analysis reached a P-value=0.0004. Four candidate genes within the refined region were analysed but did not reveal any mutations. Our findings further expand the clinical and genetic heterogeneity of LGMDs.
  • References (23)
  • Citations (19)
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References23
Newest
Published on Mar 1, 2009in Investigative Ophthalmology & Visual Science 3.81
Luigi Bisceglia24
Estimated H-index: 24
,
Patrizia De Bonis8
Estimated H-index: 8
+ 7 AuthorsLeopoldo Zelante49
Estimated H-index: 49
PURPOSE. Keratoconus (KC) is the most common indication for corneal transplantation in the Western world, with etiologic mechanisms still poorly understood. The disease prevalence in the general population is approximately 1:2000, and familial aggregation, together with increased familial risk, suggests important genetic influences on its pathogenesis. To date, several loci for familial keratoconus have been described, without the identification of any responsible gene in the respective mapped i...
Published on Oct 1, 2008in Current Opinion in Neurology 4.65
Michela Guglieri1
Estimated H-index: 1
(University of Cambridge),
Volker Straub62
Estimated H-index: 62
(UvA: University of Amsterdam)
+ 1 AuthorsHanns Lochmüller68
Estimated H-index: 68
(LMU: Ludwig Maximilian University of Munich)
Purpose of reviewThe aim of this review is to provide an up-to-date analysis of current knowledge about limb–girdle muscular dystrophies (LGMDs).Recent findingsOver the last few years, new and interesting studies have been published on LGMD. New LGMD genes have been discovered and the clinical and g
Published on Oct 1, 2005in Journal of the Medical Sciences
Jung-Ching Lin J1
Estimated H-index: 1
(UI: University of Iowa),
Elisabeth A. Gustafson-Wagner6
Estimated H-index: 6
+ 5 AuthorsLi-Chun Lin J1
Estimated H-index: 1
Xin was first cloned using differential mRNA display from the developing chicken heart. Chick Xin (cXin) participates in a BMP-Nkx2.5-MEF2C pathway to regulating cardiac morphogenesis. Through subsequent EST database searches and cDNA cloning, two mouse Xin genes, mXinα and mXinβ were identified and cloned. The human homologue of mXinα (named Cmya1) was mapped to chromosome 3p21.2-p21.3 by radiation hybrid analysis and recently to 3p22.2 by DNA sequencing, which is near the loci for a dilated ca...
Published on Dec 1, 2004in European Journal of Human Genetics 3.65
Alessandra Starling8
Estimated H-index: 8
(USP: University of São Paulo),
Fernando Kok29
Estimated H-index: 29
(USP: University of São Paulo)
+ 2 AuthorsMayana Zatz56
Estimated H-index: 56
(USP: University of São Paulo)
A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21
Published on Aug 12, 2003in Neurology 8.69
Lluís Palenzuela7
Estimated H-index: 7
,
Antoni L. Andreu37
Estimated H-index: 37
+ 9 AuthorsTorbjoern G. Nygaard31
Estimated H-index: 31
In 2001, the authors described the clinical features of a genetically distinct autosomal dominant limb-girdle muscular dystrophy (LGMD; LGMD 1F). Using a genome-wide screen with more than 400 microsatellite markers, the authors identified a novel LGMD disease locus at chromosome 7q32.1-32.2. Within this chromosomal region, filamin C , a gene encoding actin binding protein highly expressed in muscle, was an obvious candidate gene; however, the authors did not detect any defects in filamin C or it...
Published on Jun 26, 2003in The New England Journal of Medicine 70.67
Salvatore DiMauro100
Estimated H-index: 100
,
Eric A. Shoubridge100
Estimated H-index: 100
The mitochondrial respiratory chain has the crucial function of supplying the cell with energy in the form of ATP. Mutations affecting this chain can arise in mitochondrial or nuclear DNA and cause diseases known as mitochondrial encephalomyopathies. Because the rules of inheritance of mitochondrial and nuclear DNA differ considerably, these brain–muscle syndromes often have unpredictable clinical and genetic features.
Published on Jun 1, 2003in Current Opinion in Genetics & Development 5.29
Massimo Zeviani87
Estimated H-index: 87
,
Antonella Spinazzola1
Estimated H-index: 1
,
Valerio Carelli64
Estimated H-index: 64
Abstract Nuclear genes encode hundreds of proteins involved in mitochondrial biogenesis and oxidative phosphorylation (OXPHOS). Nevertheless, the identification of nuclear genes responsible for OXPHOS-related disorders has proceeded at a much slower pace, compared with the discovery and characterization of mtDNA mutations. Reasons for such a gap include rarity of syndromes, genetic heterogeneity, and ignorance on this nuclear gene repertoire in humans. This scenario is changing rapidly, thanks t...
Published on Jun 1, 2002in Neuromuscular Disorders 2.61
Guillemette Fayet6
Estimated H-index: 6
(French Institute of Health and Medical Research),
Monica Jansson4
Estimated H-index: 4
(Sahlgrenska University Hospital)
+ 5 AuthorsAnders Oldfors52
Estimated H-index: 52
(Sahlgrenska University Hospital)
Abstract Although mitochondrial DNA deletions have been shown to accumulate in cytochrome c oxidase deficient muscle fibres of ageing muscle, this has not been demonstrated for point mutations. In this study, we investigated the occurrence of mitochondrial DNA alterations (point mutations and deletions) in cytochrome c oxidase deficient muscle fibres from 14 individuals, without muscle disease, aged 69–82 years. Immunohistochemical investigation showed that the majority of the cytochrome c oxida...
Published on Feb 27, 2001in Neurology 8.69
J. Gamez10
Estimated H-index: 10
,
Carmen Navarro46
Estimated H-index: 46
+ 9 AuthorsSalvatore DiMauro35
Estimated H-index: 35
Background: Fourteen genetically distinct forms of limb-girdle muscular dystrophy (LGMD) have been identified, including five types of autosomal dominant LGMD (AD-LGMD). Objective: To describe clinical, histologic, and genetic features of a large Spanish kindred with LGMD and apparent autosomal dominant inheritance spanning five generations. Method: The authors examined 61 members of the family; muscle biopsies were performed on five patients. Linkage analysis assessed chromosomal loci associate...
Published on Jan 1, 2001in Biochimica et Biophysica Acta 3.79
Eugene Futai15
Estimated H-index: 15
(UTokyo: University of Tokyo),
Tomoteru Kubo1
Estimated H-index: 1
(UTokyo: University of Tokyo)
+ 2 AuthorsTatsuya Maeda22
Estimated H-index: 22
(UTokyo: University of Tokyo)
Abstract A mammalian homologue of the Aspergillus atypical calpain PalB, PalBH, was identified and its cDNA sequences were determined in human and mouse. The PalBH mRNA was expressed nearly ubiquitously throughout mammalian tissues. When expressed in COS cells, PalBH was enriched in the nucleus, suggesting its role is distinct from that of conventional calpains.
Cited By19
Newest
Published on Jul 1, 2018in Journal of Neurology 4.20
J. Witherick (Southmead Hospital), S. Brady (Southmead Hospital)
In this article, we highlight some of the most important developments from the last few years in the field of muscle diseases, including new additions to the congenital myasthenic syndromes (CMS) and limb-girdle muscular dystrophies (LGMD), advances in our understanding of the pathophysiology of certain muscle disorders and progress in diagnostics and therapeutics. Unsurprisingly, the most prominent developments have come from the field of genetics, with significant advances in diagnosis and gen...
Published on Oct 3, 2017in Expert opinion on orphan drugs 0.76
Corrado Angelini63
Estimated H-index: 63
,
Marina Fanin36
Estimated H-index: 36
(UNIPD: University of Padua)
ABSTRACTIntroduction: Limb Girdle Muscular Dystrophies (LGMD) are a clinically heterogeneous group of disorders presenting with a spectrum of disease severity ranging from severe childhood onset muscular dystrophy to adult-onset dystrophy. LGMDs include both dominant and recessive forms.Areas covered: The clinical phenotypes and diagnostic features of LGMD and specific features for each disease have been presented. An updated list of molecularly defined LGMD is provided. The instrumental, muscle...
Published on Dec 1, 2016
Stanley Iyadurai2
Estimated H-index: 2
,
John T. Kissel49
Estimated H-index: 49
Published on Jul 22, 2015in Journal of neuromuscular diseases
A. Murphy3
Estimated H-index: 3
,
Volker Straub62
Estimated H-index: 62
(Newcastle University)
Over sixty years ago John Walton and Frederick Nattrass defined limb girdle muscular dystrophy (LGMD) as a separate entity from the X-linked dystrophinopathies such as Duchenne and Becker muscular dystrophies. LGMD is a highly heterogeneous group of very rare neuromuscular disorders whose common factor is their autosomal inheritance. Sixty years later, with the development of increasingly advanced molecular genetic investigations, a more precise classification and understanding of the pathogenes...
Published on May 14, 2015
Massimiliano Filosto31
Estimated H-index: 31
,
Mauro Scarpelli13
Estimated H-index: 13
,
Alessandro Padovani56
Estimated H-index: 56
The limb-girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous neuromuscular disorders caused by specific protein defects in muscle fibres and characterised by predominant weakness and wasting in proximal limb and axial muscles. Most of these diseases present with wide clinical heterogeneity and the limb-girdle phenotype should be regarded as one of the possible phenotypic expressions of a specific protein defect. Therefore, a precise clinical evaluation is often difficult...
Published on Jan 1, 2015
Over sixty years ago John Walton and Frederick Nattrass defined limb girdle muscular dystrophy (LGMD) as a separate entity from the X-linked dystrophinopathies such as Duchenne and Becker muscular dystrophies. LGMD is a highly heterogeneous group of very rare neuromuscular disorders whose common factor is their autosomal inheritance. Sixty years later, with the development of increasingly advanced molecular genetic investigations, a more precise classification and understanding of the pathogenes...
Published on Aug 1, 2014in Human Molecular Genetics 4.54
Michel Satya Naslavsky11
Estimated H-index: 11
(USP: University of São Paulo),
Luciana Licinio5
Estimated H-index: 5
(USP: University of São Paulo)
+ 12 AuthorsCristina Vasquez1
Estimated H-index: 1
Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetically determined muscle disor-derswithaprimaryorpredominantinvolvementofthepelvicorshouldergirdlemusculature.Morethan20geneswith autosomal recessive (LGMD2A to LGMD2Q) and autosomal dominant inheritance (LGMD1A to LGMD1H)havebeenmapped/identifiedtodate.Mutationsareknownforsixamongtheeightmappedautosomaldominantforms:LGMD1A(myotilin),LGMD1B(laminA/C),LGMD1C(caveolin-3),LGMD1D(desmin),LGMD1E(DNAJB6),and more recently for LGM...
Published on May 1, 2014in Molecular Medicine Reports 1.85
Omar Abdulmonem Mahmood2
Estimated H-index: 2
(JLU: Jilin University),
Xin Mei Jiang1
Estimated H-index: 1
(JLU: Jilin University)
Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of disorders, which has led to certain investigators disputing its rationality. The mutual feature of LGMD is limb-girdle affection. Magnetic resonance imaging (MRI), perioral skin biopsies, blood-based assays, reverse-protein arrays, proteomic analyses, gene chips and next generation sequencing are the leading diagnostic techniques for LGMD and gene, cell and pharmaceutical treatments are the mainstay therapies for these genetic ...
Published on Apr 1, 2014in Neuropathology 2.16
Josep Gamez15
Estimated H-index: 15
(Autonomous University of Barcelona)