A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 families (Q35434715)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10807695%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

title

A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 families (English)

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6 November 2019

11

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6 November 2019

author name string

P Dinçer

1

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6 November 2019

Z Akçören

2

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6 November 2019

E Demir

3

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6 November 2019

I Richard

4

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6 November 2019

O Sancak

5

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6 November 2019

G Kale

6

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6 November 2019

S Ozme

7

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6 November 2019

A Karaduman

8

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6 November 2019

E Tan

9

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6 November 2019

J A Urtizberea

10

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6 November 2019

H Topaloğlu

12

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6 November 2019

language of work or name

English

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publication date

1 May 2000

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Journal of Medical Genetics

6 November 2019

published in

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6 November 2019

volume

37

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6 November 2019

issue

5

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6 November 2019

page(s)

361-367

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Multiplex Western blotting system for the analysis of muscular dystrophy proteins

6 November 2019

cites work

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

27 July 2018

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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

27 July 2018

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

27 July 2018

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

27 July 2018

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

27 July 2018

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Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins

27 July 2018

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Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21.

27 July 2018

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

27 July 2018

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

27 July 2018

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Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation

27 July 2018

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

27 July 2018

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

27 July 2018

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Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures

27 July 2018

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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

27 July 2018

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Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12

27 July 2018

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

27 July 2018

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27 July 2018

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

27 July 2018

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

27 July 2018

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

27 July 2018

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

27 July 2018

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

27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

Emery-Dreifuss syndrome

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27 July 2018

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Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q.

27 July 2018

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27 July 2018

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Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency.

26 September 2018

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From adhalinopathies to alpha-sarcoglycanopathies: an overview.

26 September 2018

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

26 September 2018

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

26 September 2018

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Muscular dystrophies: diseases of the dystrophin-glycoprotein complex

26 September 2018

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Genetic and Physical Mapping at the Limb-Girdle Muscular Dystrophy Locus (LGMD2B) on Chromosome 2p

26 September 2018

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Analysis of "pure" congenital muscular dystrophies in thirty-eight cases. How different is the classical type 1 from the occidental type cerebromuscular dystrophy?

15 November 2018

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12 December 2020

Calpain-3 deficiency causes a mild muscular dystrophy in childhood

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12 December 2020

Limb-girdle muscular dystrophy 2C: clinical aspects

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12 December 2020

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

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12 December 2020

Good clinical observation is essential before molecular studies

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12 December 2020

Caveolin-3 deficiency as a cause of limb-girdle muscular dystrophy

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12 December 2020

Consanguineous marriage in Turkey and its impact on fertility and mortality

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12 December 2020

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

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12 December 2020

A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage

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12 December 2020

The phenotype of chromosome 2p-linked limb-girdle muscular dystrophy

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12 December 2020

Identifiers

DOI

10.1136/JMG.37.5.361

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10807695%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

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6 November 2019

PubMed publication ID

10807695

1 reference