(Q33594097)

28 July 2017

title

Limb-girdle type muscular dystrophy in a large family with distal myopathy: homozygous manifestation of a dominant gene? (English)

1 reference

distal muscular dystrophy

28 July 2017

1 reference

1 reference

1 reference

https://api.crossref.org/works/10.1136/JMG.29.6.383

16 October 2022

1 reference

B. Udd

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1619633

16 October 2022

language of work or name

English

0 references

publication date

1 June 1992

1 reference

full work available at URL

28 July 2017

https://europepmc.org/articles/PMC1015987

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1619633

https://europepmc.org/articles/PMC1015987?pdf=render

16 October 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1619633

https://syndication.highwire.org/content/doi/10.1136/jmg.29.6.383

16 October 2022

1 reference

https://api.crossref.org/works/10.1136/JMG.29.6.383

Journal of Medical Genetics

16 October 2022

published in

1 reference

28 July 2017

volume

29

1 reference

28 July 2017

issue

6

1 reference

28 July 2017

page(s)

383-389

1 reference

Distal muscular dystrophy in an English family

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015987

Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy. Seventeen cases in eight families including an autopsied case

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015987

Clinical concepts of Duchenne muscular dystrophy. The impact of molecular genetics

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015987

Homozygotes for Huntington's disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015987

GISSI-2: a factorial randomised trial of alteplase versus streptokinase and heparin versus no heparin among 12,490 patients with acute myocardial infarction. Gruppo Italiano per lo Studio della Sopravvivenza nell'Infarto Miocardico

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015987

Muscular dystrophy with separate clinical phenotypes in a large family

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015987

Sporadic distal myopathy with early adult onset

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015987

Distal myopathy: Electron microscopic and histochemical studies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015987

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015987

Homozygosity for the transthyretin-met30-gene in two Swedish sibs with familial amyloidotic polyneuropathy

30 October 2018

1 reference

12 December 2020

Limb girdle syndromes. Clinical, morphological and electrophysiological studies

1 reference

12 December 2020

Distal myopathy: histochemical and ultrastructural studies

1 reference

12 December 2020

A new type of distal myopathy in two brothers

1 reference

12 December 2020

A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and intermediate (skeletin) filaments

1 reference

12 December 2020

Dominance and homozygosity in man

1 reference

12 December 2020

Homozygous appearance of distal myopathy

1 reference

12 December 2020

Myopathia distalis tarda hereditaria; 249 examined cases in 72 pedigrees

1 reference

12 December 2020

Myopathia distalis tarda hereditaria

series ordinal

7

1 reference

https://api.crossref.org/works/10.1136/JMG.29.6.383

16 October 2022

Identifiers

DOI

10.1136/JMG.29.6.383

1 reference

28 July 2017

1 reference

28 July 2017

1 reference