(Q34389127)

1 August 2017

Autosomal dominant myopathy with proximal weakness and early respiratory muscle involvement maps to chromosome 2q. (English)

1 reference

ORCID Public Data File 2021

1 August 2017

1 reference

author name string

Nicolao P

1

1 reference

1 August 2017

Xiang F

2

1 reference

1 August 2017

Gunnarsson LG

3

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1 August 2017

Giometto B

4

1 reference

1 August 2017

Edström L

5

1 reference

1 August 2017

Anvret M

6

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1 August 2017

Zhang Z

7

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1 August 2017

language of work or name

English

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publication date

1 March 1999

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American Journal of Human Genetics

1 August 2017

1 reference

1 August 2017

64

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1 August 2017

788-792

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1 August 2017

3

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377796

1 August 2017

1 reference

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377796

Assignment of the tibial muscular dystrophy locus to chromosome 2q31.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377796

Faster sequential genetic linkage computations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377796

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377796

The complete primary structure of human nebulin and its correlation to muscle structure

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377796

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377796

Easy calculations of lod scores and genetic risks on small computers

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377796

Visualization of the polarity of isolated titin molecules: a single globular head on a long thin rod as the M band anchoring domain?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377796

The organization of titin filaments in the half-sarcomere revealed by monoclonal antibodies in immunoelectron microscopy: a map of ten nonrepetitive epitopes starting at the Z line extends close to the M line

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377796

Nonvacuolar myopathy in a large family with both late adult onset distal myopathy and severe proximal muscular dystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377796

Acid maltase deficiency in adults presenting as respiratory failure

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377796

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377796

Diagnostic criteria for the limb-girdle muscular dystrophies: report of the ENMC Consortium on Limb-Girdle Dystrophies

9 December 2018

1 reference

12 December 2020

A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis

1 reference

12 December 2020

Refined localisation of the genes for nebulin and titin on chromosome 2q allows the assignment of nebulin as a candidate gene for autosomal recessive nemaline myopathy

1 reference

12 December 2020

Genetic fine mapping of the Miyoshi myopathy locus and exclusion of eight candidate genes

1 reference

12 December 2020

Tibial muscular dystrophy. Late adult-onset distal myopathy in 66 Finnish patients

1 reference

12 December 2020

Electron microscopic filament lengths of connection and its fragments

1 reference

12 December 2020

Identifiers

DOI

10.1086/302281

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1 August 2017

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1 August 2017

1 reference