Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome (Q57640094)

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1 November 2019

title

Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome (English)

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1 November 2019

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1 November 2019

Pascale Guicheney

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1 November 2019

author name string

B Moghadaszadeh

1

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1 November 2019

H Topaloglu

2

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1 November 2019

F Muntoni

4

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1 November 2019

B Estournet

5

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1 November 2019

C Sewry

6

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1 November 2019

I Naom

7

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1 November 2019

A Barois

8

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M Fardeau

9

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F M Tomé

10

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publication date

1 October 1999

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1 November 2019

published in

Neuromuscular Disorders

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1 November 2019

volume

9

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issue

6-7

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1 November 2019

page(s)

376-382

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Rigid spine syndrome and rigid spine sign in myopathies

1 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900051-6

7 January 2021

Congenital muscular dystrophy and rigid spine syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900051-6

7 January 2021

Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900051-6

7 January 2021

Congenital muscular dystrophies: 1997 update

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900051-6

7 January 2021

Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900051-6

7 January 2021

Unusual type of benign x-linked muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900051-6

7 January 2021

Presence of emerinopathy in cases of rigid spine syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900051-6

7 January 2021

Non-progressive central core disease with severe congenital scoliosis: a case report

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900051-6

7 January 2021

Two siblings with nemaline myopathy presenting with rigid spine syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900051-6

7 January 2021

The rigid spine syndrome due to acid maltase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900051-6

7 January 2021

Proceedings of the 27th ENMC sponsored workshop on congenital muscular dystrophy. 22-24 April 1994, The Netherlands

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900051-6

7 January 2021

41st ENMC International Workshop on Congenital Muscular Dystrophy 8-10 March 1996, Naarden, The Netherlands

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900051-6

7 January 2021

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900051-6

7 January 2021

The spectrum of the so-called rigid spine syndrome: nosological considerations and report of three female cases

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900051-6

7 January 2021

10.1016/S0960-8966(99)00051-6

Identifiers

DOI

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1 November 2019

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