Estimate of severe autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D) among sporadic muscular dystrophy males: a study of 415 familes (Q33682904)

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Language	Label	Description	Also known as
English	Estimate of severe autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D) among sporadic muscular dystrophy males: a study of 415 familes	scientific article

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Estimate of severe autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D) among sporadic muscular dystrophy males: a study of 415 familes (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

autosomal recessive limb-girdle muscular dystrophy

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autosomal recessive limb-girdle muscular dystrophy type 2D

1 reference

based on heuristic

inferred from title

author name string

Stec I

1

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Kress W

2

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Meng G

3

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Müller B

4

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Müller CR

5

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Grimm T

6

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

language of work or name

0 references

publication date

1 December 1995

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Journal of Medical Genetics

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Europe PubMed Central

PubMed publication ID

28 July 2017

32

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

12

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

930-933

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051770

21 June 2018

On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051770

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051770

21 June 2018

Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication in E. coli

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051770

21 June 2018

Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051770

21 June 2018

Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051770

21 June 2018

A cDNA clone from the Duchenne/Becker muscular dystrophy gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051770

21 June 2018

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051770

21 June 2018

Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051770

21 June 2018

Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051770

21 June 2018

Presence of normal dystrophin in Tunisian severe childhood autosomal recessive muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051770

21 June 2018

Population frequencies of inherited neuromuscular diseases—A world survey

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051770

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051770

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051770

30 October 2018

Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8825917

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8825917

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Screening of male patients with autosomal recessive Duchenne dystrophy through dystrophin and DNA studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/8825917

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.32.12.930

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

ResearchGate publication ID

0 references

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