Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum (Q50223887)

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title

Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum (English)

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Simao Cruz

1

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Sebastian Figueroa-Bonaparte

2

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Eduard Gallardo

3

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Alix de Becdelièvre

4

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Corine Gartioux

5

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Valérie Allamand

6

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Patricia Piñol

7

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Maria Angels Rodriguez Garcia

8

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Cecilia Jiménez-Mallebriera

9

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Jaume Llauger

10

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Lidia González-Rodríguez

11

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Elena Cortes-Vicente

12

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Isabel Illa

13

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Jordi Díaz-Manera

14

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publication date

1 May 2016

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Journal of neuromuscular diseases

published in

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volume

3

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issue

2

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page(s)

267-274

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Collagen type VI myopathies

cites work

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https://api.crossref.org/works/10.3233%2FJND-150135

The collagen VI-related myopathies: muscle meets its matrix

21 January 2018

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https://api.crossref.org/works/10.3233%2FJND-150135

Benign myopathy, with autosomal dominant inheritance. A report on three pedigrees

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJND-150135

Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJND-150135

Autosomal recessive myosclerosis myopathy is a collagen VI disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJND-150135

Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJND-150135

A refined diagnostic algorithm for Bethlem myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJND-150135

Early onset collagen VI myopathies: Genetic and clinical correlations

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJND-150135

Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJND-150135

Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJND-150135

Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern.

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJND-150135

Bethlem myopathy: Early-onset benign autosomal dominant myopathy with contractures. Description of two new families

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJND-150135

A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJND-150135

21 January 2018

Identifiers

DOI

10.3233/JND-150135

0 references

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27 February 2018