(Q33680403)

28 July 2017

title

Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity (English)

1 reference

28 July 2017

1 reference

Vincent MC

1

1 reference

28 July 2017

Guiraud-Chaumeil C

2

1 reference

28 July 2017

Laporte J

3

1 reference

28 July 2017

Manouvrier-Hanu S

4

1 reference

28 July 2017

Mandel JL

5

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 March 1998

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

35

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28 July 2017

issue

3

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28 July 2017

page(s)

241-243

1 reference

Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center

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=1051250

Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051250

Discordant segregation of Xq28 markers and a mutation in the L1 gene in a family with X linked hydrocephalus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051250

A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051250

The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA 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=1051250

Genetic mosaicism: what Gregor Mendel didn't know

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051250

Genetic linkage heterogeneity in myotubular myopathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051250

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051250

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051250

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051250

Germ-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051250

Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051250

A mutation in the MTM1 gene invalidates a previous suggestion of nonallelic heterogeneity in X-linked myotubular myopathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051250

Germline mosaicism and Duchenne muscular dystrophy mutations

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051250

Germinal mosaicism in a Duchenne muscular dystrophy family: implications for genetic counselling

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9541111

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Prenatal diagnosis of X-linked myotubular myopathy: strategies using new and tightly linked DNA markers

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9541111

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9541111

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.35.3.241

1 reference

28 July 2017

1 reference

28 July 2017

1 reference