Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects (Q37426320)

20 August 2017

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title

Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects (English)

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20 August 2017

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Umbertina Conti Reed

1

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20 August 2017

publication date

1 March 2009

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Arquivos de Neuro-Psiquiatria

20 August 2017

published in

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20 August 2017

volume

67

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20 August 2017

issue

1

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20 August 2017

page(s)

144-168

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The congenital muscular dystrophies in 2004: a century of exciting progress

20 August 2017

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A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype

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Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Absence of integrin alpha 7 causes a novel form of muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Homologies in both primary and secondary structure between nuclear envelope and intermediate filament proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Human laminopathies: nuclei gone genetically awry

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

"Laminopathies": a wide spectrum of human diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Molecular etiopathogenesis of limb girdle muscular and congenital muscular dystrophies: boundaries and contiguities

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Merosin-positive congenital muscular dystrophy in two siblings with cataract and slight mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Heterogeneity of classic congenital muscular dystrophy with involvement of the central nervous system: report of five atypical cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Merosin-positive congenital muscular dystrophy: a large inbred family

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Respiratory function in congenital muscular dystrophy and limb girdle muscular dystrophy 2I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Ventilator management for neuromuscular disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Longterm noninvasive ventilation in children and adolescents with neuromuscular disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Respiratory function assessment and intervention in neuromuscular disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Respiratory support for the severely handicapped child with neuromuscular disease: ethics and practicality

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

117th ENMC workshop: ventilatory support in congenital neuromuscular disorders -- congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II) 4-6 April 2003, Naarden, The Netherlands

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Developing an interdisciplinary palliative care plan for the patient with muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Feeding problems in merosin deficient congenital muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Gastrostomy placement in paediatric patients with neuromuscular disorders: indications and outcome

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

A Novel Form of Familial Congenital Muscular Dystrophy in Two Adolescents

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Heart transplantation in a child with LGMD2I presenting as isolated dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Molecular consequences of dominant Bethlem myopathy collagen VI mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

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/10.1590%2FS0004-282X2009000100038

Variable penetrance of COL6A1 null mutations: Implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Localisation of merosin-positive congenital muscular dystrophy to chromosome 4p16.3

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Laminin α2 deficiency and muscular dystrophy; genotype-phenotype correlation in mutant mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Merosin-deficient congenital muscular dystrophy (CMD): a study of 25 Brazilian patients using MRI

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

10.1590/S0004-282X2009000100038

21 January 2018

Identifiers

DOI

1 reference

20 August 2017

1 reference