(Q33682391)

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The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies

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Europe PubMed Central

PubMed publication ID

28 July 2017

1 reference

Europe PubMed Central

The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

author name string

Wallgren-Pettersson C

1

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Clarke A

2

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Samson F

3

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Fardeau M

4

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Dubowitz V

5

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Moser H

6

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Grimm T

7

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Barohn RJ

8

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Barth PG

9

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

language of work or name

0 references

publication date

1 September 1995

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

32

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

9

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

673-679

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051665

21 June 2018

Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051665

21 June 2018

X-linked recessive myotubular myopathy: I. Clinical and pathologic findings in a family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051665

21 June 2018

Centronuclear myopathy: disease entity or a syndrome? Light- and electron-microscopic study of two cases and review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051665

21 June 2018

Hypotrophic type I muscle fibres with central nuclei, and central myofibrillar lysis preferentially involving type II fibres.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051665

21 June 2018

Type I fiber hypotrophy and central nuclei. A rare congenital muscle abnormality with a possible experimental model

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051665

21 June 2018

Congenital centronuclear (myotubular) myopathy. A clinical, pathological and genetic study in eight children

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051665

21 June 2018

On some myopathies with oculomotor involvement

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051665

21 June 2018

Severe neonatal centronuclear myopathy with autosomal dominant inheritance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051665

21 June 2018

X-linked myotubular myopathy: clinical and pathological findings in a family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051665

21 June 2018

X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051665

21 June 2018

A linkage study of a large pedigree with X linked centronuclear myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051665

21 June 2018

Severe neonatal asphyxia due to X-linked centronuclear myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051665

21 June 2018

Genetics of congenital nemaline myopathy: a study of 10 families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051665

21 June 2018

X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051665

21 June 2018

X-linked centronuclear myopathy: Mapping the gene to Xq28

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051665

21 June 2018

Vimentin and desmin in maturing skeletal muscle and developmental myopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051665

21 June 2018

Expression of cell surface and cytoskeleton developmentally regulated proteins in adult centronuclear myopathies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051665

21 June 2018

X-linked myotubular myopathy with fatal neonatal asphyxia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051665

21 June 2018

Centronuclear myopathy: possible central nervous system origin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051665

21 June 2018

Crural hypertrophy associated with centronuclear myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051665

21 June 2018

Familial centronuclear myopathy associated with 'cardiomyopathy'

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051665

21 June 2018

Myotubular myopathy: arrest of morphogenesis of myofibres associated with persistence of fetal vimentin and desmin. Four cases compared with fetal and neonatal muscle.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051665

30 October 2018

Centronuclear myopathy--an inherited neuromuscular disorder. A report of 3 cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/8544184

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genuine myotubular myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8544184

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Myopathy with pathological features of both centronuclear myopathy and multicore disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8544184

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant centronuclear myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8544184

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Report on the 20th ENMC sponsored international workshop: myotubular/centronuclear myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8544184

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28

1 reference

https://pubmed.ncbi.nlm.nih.gov/8544184

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked myotubular myopathy: a case report of prenatal and perinatal aspects

1 reference

https://pubmed.ncbi.nlm.nih.gov/8544184

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis of X-linked centronuclear myopathy by linkage analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8544184

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial centronuclear myopathy: a clinical and pathological study

1 reference

https://pubmed.ncbi.nlm.nih.gov/8544184

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial "myotubular" myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8544184

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Descending Ocular Myopathy of Early Childhood Myotubular or Centronuclear Myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8544184

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Type I muscle fibre atrophy and central nuclei. A rare familial neuromuscular disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8544184

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Centronuclear myopathy with autosomal dominant inheritance

1 reference

https://pubmed.ncbi.nlm.nih.gov/8544184

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial neuromuscular disease with "myotubes"

1 reference

https://pubmed.ncbi.nlm.nih.gov/8544184

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Centronuclear myopathy with autosomal dominant inheritance(author's transl)

1 reference

https://pubmed.ncbi.nlm.nih.gov/8544184

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial form of centronuclear myopathy in the adult

1 reference

https://pubmed.ncbi.nlm.nih.gov/8544184

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Myotubular (centronuclear) (neuro-)myopathy. I. Clinical, genetical and morphological studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/8544184

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Centronuclear myopathy with unusual clinical picture

1 reference

https://pubmed.ncbi.nlm.nih.gov/8544184

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked myotubular myopathy: intrafamilial variability and normal muscle biopsy in a heterozygous female

1 reference

https://pubmed.ncbi.nlm.nih.gov/8544184

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial centronuclear myopathy: a clinical and pathological study

1 reference

https://pubmed.ncbi.nlm.nih.gov/8544184

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Problems in genetic counseling in a family with an "atypical" centronuclear myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8544184

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Centronuclear myopathy and type-1 hypotrophy without central nuclei. Distinct nosologic entities?

1 reference

https://pubmed.ncbi.nlm.nih.gov/8544184

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked myotubular myopathy: a linkage study

1 reference

https://pubmed.ncbi.nlm.nih.gov/8544184

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Maternal muscle biopsy in X-linked recessive centronuclear (myotubular) myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8544184

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial centronuclear myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8544184

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.32.9.673

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

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