(Q36142482)

12 August 2017

Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy (English)

1 reference

distal muscular dystrophy

12 August 2017

1 reference

P J Lamont

1

1 reference

12 August 2017

B Udd

2

1 reference

12 August 2017

F L Mastaglia

3

1 reference

12 August 2017

M de Visser

4

1 reference

12 August 2017

P Hedera

5

1 reference

12 August 2017

T Voit

6

1 reference

12 August 2017

L R Bridges

7

1 reference

12 August 2017

V Fabian

8

1 reference

12 August 2017

A Rozemuller

9

1 reference

12 August 2017

N G Laing

10

1 reference

12 August 2017

language of work or name

English

0 references

publication date

15 August 2005

1 reference

Journal of Neurology, Neurosurgery and Psychiatry

12 August 2017

1 reference

12 August 2017

77

1 reference

12 August 2017

2

1 reference

12 August 2017

208-215

1 reference

Myopathies resulting from mutations in sarcomeric proteins

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077563

Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077563

Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077563

Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077563

Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077563

Autosomal dominant distal myopathy: linkage to chromosome 14.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077563

Infantile autosomal dominant distal myopathy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077563

Type 1 fiber abnormalities in skeletal muscle of patients with hypertrophic and dilated cardiomyopathy: evidence of subclinical myogenic myopathy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077563

A Lecture on Myopathy and a Distal Form: Delivered at the National Hospital for the Paralysed and Epileptic

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077563

Nemaline rods and complex I deficiency in three infants with hypotonia, motor delay and failure to thrive.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077563

Myosin storage myopathy associated with a heterozygous missense mutation in MYH7

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077563

An autosomal dominant early adult-onset distal muscular dystrophy

23 September 2018

1 reference

12 December 2020

The second kindred with autosomal dominant distal myopathy linked to chromosome 14q: genetic and clinical analysis

1 reference

12 December 2020

Early onset chromosome 14-linked distal myopathy (Laing)

1 reference

12 December 2020

Voluntary muscle involvement in hypertrophic cardiomyopathy. A study of eleven patients

1 reference

12 December 2020

Identifiers

DOI

10.1136/JNNP.2005.073825

1 reference

12 August 2017

1 reference

12 August 2017

PubMed publication ID

16103042

1 reference