Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation. (Q36254120)

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English	Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation.	scientific article

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scholarly article

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28103310%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28103310%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

limb-girdle muscular dystrophy

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based on heuristic

inferred from title

Antonio Miranda-Duarte

2

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9 April 2020

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Carlos A Pantoja-Melendez

1

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9 April 2020

Bladimir Roque-Ramirez

3

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9 April 2020

Juan C Zenteno

4

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9 April 2020

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19 January 2017

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9 April 2020

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28103310%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

12

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9 April 2020

1

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9 April 2020

e0170280

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9 April 2020

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Creative Commons Attribution 4.0 International

19 January 2017

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association o

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Genetic basis of limb-girdle muscular dystrophies: the 2014 update

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Limb-girdle muscular dystrophies: where next after six decades from the first proposal (Review).

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Carrier frequency of the c.525delT mutation in the SGCG gene and estimated prevalence of limb girdle muscular dystrophy type 2C among the Moroccan population

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An epidemiological investigation of a Forkhead box protein E3 founder mutation underlying the high frequency of sclerocornea, aphakia, and microphthalmia in a Mexican village.

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Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F

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Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches

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SNP-array based whole genome homozygosity mapping: a quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients

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Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy

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Diagnosis and management of the limb girdle muscular dystrophies

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Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population

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30 September 2017

Analysis of genomic diversity in Mexican Mestizo populations to develop genomic medicine in Mexico

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GeneDistiller--distilling candidate genes from linkage intervals

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EFNS guideline on diagnosis and management of limb girdle muscular dystrophies

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30 September 2017

Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes

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30 September 2017

Molecular bases of autosomal recessive limb-girdle muscular dystrophies.

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30 September 2017

Phenotype and sarcoglycan expression in Tunisian LGMD 2C patients sharing the same del521-T mutation

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Pitfalls in homozygosity mapping.

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

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Advances in the molecular genetics of the limb-girdle type of autosomal recessive progressive muscular dystrophy.

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

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Multiple mutations in a specific gene in a small geographic area: a common phenomenon?

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Limb-girdle muscular dystrophy type 2I is not rare in Taiwan.

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22 September 2018

Homozygosity mapping identifies the Crumbs homologue 1 (Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos.

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The frequency of limb girdle muscular dystrophy 2A in northeastern Italy

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based on heuristic

inferred from PubMed ID database lookup

Muscular dystrophies

1 reference

https://pubmed.ncbi.nlm.nih.gov/28103310

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The 2015 version of the gene table of monogenic neuromuscular disorders (nuclear genome)

1 reference

https://pubmed.ncbi.nlm.nih.gov/28103310

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The muscular dystrophies

1 reference

https://pubmed.ncbi.nlm.nih.gov/28103310

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PONE.0170280

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28103310%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

2017PLoSO..1270280P

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PMC publication ID

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28103310%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28103310%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

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