The 10 autosomal recessive limb-girdle muscular dystrophies (Q35201105)

7 August 2017

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title

The 10 autosomal recessive limb-girdle muscular dystrophies (English)

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7 August 2017

1

Mayana Zatz

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7 August 2017

Flavia de Paula

2

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Mariz Vainzof

object named as

Mariz Vainzof

series ordinal

4

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author name string

Alessandra Starling

series ordinal

3

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7 August 2017

publication date

1 September 2003

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7 August 2017

published in

Neuromuscular Disorders

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7 August 2017

volume

13

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7 August 2017

issue

7-8

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7 August 2017

page(s)

532-544

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The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms

7 August 2017

cites work

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7 January 2021

Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes

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7 January 2021

Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

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7 January 2021

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7 January 2021

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Human adhalin is alternatively spliced and the gene is located on chromosome 17q21

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein

1 reference

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7 January 2021

The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

The 105th ENMC sponsored workshop: pathogenesis in the non-sarcoglycan limb-girdle muscular dystrophies, Naarden, April 12–14, 2002

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7 January 2021

Calpainopathy-a survey of mutations and polymorphisms

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7 January 2021

The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach

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7 January 2021

Clinical variability in calpainopathy: what makes the difference?

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Calpain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Chromosome 15-linked limb-girdle muscular dystrophy: clinical phenotypes in Reunion Island and French metropolitan communities

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A

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https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Telethonin protein expression in neuromuscular disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Dysferlin Protein Analysis in Limb-Girdle Muscular Dystrophies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

The muscular dystrophy with myositis (mdm) mouse mutation disrupts a skeletal muscle-specific domain of titin

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Calpain: a protease in search of a function?

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Structure and physiology of calpain, an enigmatic protease

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https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

A novel aspect of calpain activation

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https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IκBα/NF-κB pathway in limb-girdle muscular dystrophy type 2A

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Dysferlin is a plasma membrane protein and is expressed early in human development

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and miyoshi myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Myoferlin, a candidate gene and potential modifier of muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s)

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Making sense of the limb-girdle muscular dystrophies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Mutations in the sarcoglycan genes in patients with myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Beta-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families.

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https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Glycoprotein complex anchoring dystrophin to sarcolemma

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https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Membrane organization of the dystrophin-glycoprotein complex

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https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

The dystrophin-glycoprotein complex, cellular signaling, and the regulation of cell survival in the muscular dystrophies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Membrane targeting and stabilization of sarcospan is mediated by the sarcoglycan subcomplex

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

epsilon-Sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

epsilon-sarcoglycan replaces alpha-sarcoglycan in smooth muscle to form a unique dystrophin-glycoprotein complex

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

The clinical spectrum of sarcoglycanopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2)

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Association of dystrophin and an integral membrane glycoprotein.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Molecular basis of muscular dystrophies.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Sarcoglycans in muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Partial alpha-sarcoglycan deficiency with retention of the dystrophin-glycoprotein complex in a LGMD2D family

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Diagnostic criteria for the limb-girdle muscular dystrophies: report of the ENMC Consortium on Limb-Girdle Dystrophies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Listening to silence and understanding nonsense: exonic mutations that affect splicing

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Telethonin, a novel sarcomeric protein of heart and skeletal muscle

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Autosomal recessive muscular dystrophy in Manitoba Hutterites*

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Limb girdle muscular dystrophy in Manitoba Hutterites does not map to any of the known LGMD loci

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Identification of a novel human zinc finger protein that specifically interacts with the activation domain of lentiviral Tat proteins

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

A novel repeat domain that is often associated with RING finger and B-box motifs.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

The gene for a novel glycosyltransferase is mutated in congenital muscular dystrophy MDC1C and limb girdle muscular dystrophy 2I

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Assignment of the tibial muscular dystrophy locus to chromosome 2q31.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

Titins: giant proteins in charge of muscle ultrastructure and elasticity

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

The phenotype of limb-girdle muscular dystrophy type 2I

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900100-7

7 January 2021

10.1016/S0960-8966(03)00100-7

Identifiers

DOI

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7 August 2017

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