Making sense of the limb-girdle muscular dystrophies (Q33701932)

28 July 2017

1 reference

title

Making sense of the limb-girdle muscular dystrophies (English)

1 reference

28 July 2017

Bushby KM

1

1 reference

PubMed ID

10430828

28 July 2017

language of work or name

English

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publication date

1 August 1999

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28 July 2017

1 reference

28 July 2017

122 ( Pt 8)

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28 July 2017

1403-1420

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The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives

28 July 2017

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

Multiplex Western blotting system for the analysis of muscular dystrophy proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

Benign myopathy, with autosomal dominant inheritance. A report on three pedigrees

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

Report on the 12th ENMC sponsored international workshop--the "limb-girdle" muscular dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

The limb-girdle muscular dystrophies--proposal for a new nomenclature.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

Abnormal merosin in adults. A new form of late onset muscular dystrophy not linked to chromosome 6q2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

Association of dystrophin and an integral membrane glycoprotein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

A primary expression map of the chromosome 15q15 region containing the recessive form of limb-girdle muscular dystrophy (LGMD2A) gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

Mutations in the sarcoglycan genes in patients with myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

21 January 2018

Emery-Dreifuss syndrome

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

Mapping of a chromosome 15 region involved in limb girdle muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

The frequency of patients with 50-kd dystrophin-associated glycoprotein (50DAG or adhalin) deficiency in a muscular dystrophy patient population in Japan: immunocytochemical analysis of 50DAG, 43DAG, dystrophin, and utrophin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

Abnormalities of dystrophin, the sarcoglycans, and laminin alpha2 in the muscular dystrophies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

Muscle-specific calpain, p94, interacts with the extreme C-terminal region of connectin, a unique region flanked by two immunoglobulin C2 motifs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

Miyoshi-type distal muscular dystrophy. Clinical spectrum in 24 Dutch patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

Dystrophin-glycoprotein complex: its role in the molecular pathogenesis of muscular dystrophies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

Caveolin-3 in muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

Identification of the Syrian hamster cardiomyopathy gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

Both hypertrophic and dilated cardiomyopathies are caused by mutation of the same gene, delta-sarcoglycan, in hamster: an animal model of disrupted dystrophin-associated glycoprotein complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

Expression of caveolin-3 in skeletal, cardiac, and smooth muscle cells. Caveolin-3 is a component of the sarcolemma and co-fractionates with dystrophin and dystrophin-associated glycoproteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

Absence of calpain 3 in a form of limb-girdle muscular dystrophy (LGMD2A).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

Muscular dystrophies and the dystrophin-glycoprotein complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

Early onset autosomal dominant myopathy with rigidity of the spine: a possible role for laminin beta 1?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

Limb girdle muscular dystrophy: reappraisal of a rejected entity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

On the classification, natural history and treatment of the myopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

Dystroglycan is essential for early embryonic development: disruption of Reichert's membrane in Dag1-null mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

Muscular dystrophies: diseases of the dystrophin-glycoprotein complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

Glycoprotein complex anchoring dystrophin to sarcolemma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

A linkage map of human chromosome 15 with an average resolution of 2 cM and containing 55 polymorphic microsatellites

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

Prenatal diagnosis of limb-girdle muscular dystrophy type 2A

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

Genetic heterogeneity in Miyoshi-type distal muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F122.8.1403

21 January 2018

Identifiers

DOI

10.1093/BRAIN/122.8.1403

1 reference

28 July 2017

1 reference

PubMed ID

10430828