Prenatal diagnosis of congenital myopathies and muscular dystrophies. (Q38838661)

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2 April 2020

review article

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title

Prenatal diagnosis of congenital myopathies and muscular dystrophies (English)

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2 April 2020

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Grzegorz Jakiel

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J G Zimowski

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J Bijok

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author name string

A Kucińska-Chahwan

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A Łusakowska

5

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T Roszkowski

7

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language of work or name

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2 June 2016

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volume

90

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issue

3

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page(s)

199-210

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Inherited myopathies and muscular dystrophies

2 April 2020

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Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene

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21 January 2018

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21 January 2018

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21 January 2018

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Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability

21 January 2018

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Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Walker-Warburg syndrome diagnosed by findings of typical ocular abnormalities on prenatal ultrasound

21 January 2018

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Walker-Warburg syndrome: prenatal ultrasound findings

21 January 2018

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Prenatal ultrasound and magnetic resonance imaging features in a fetus with Walker-Warburg syndrome

21 January 2018

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Walker-Warburg syndrome with persistent hyperplastic primary vitreous detected by prenatal ultrasonography

21 January 2018

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Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate

21 January 2018

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Core-rod myopathy caused by mutations in the nebulin gene

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ECEL1mutation causes fetal arthrogryposis multiplex congenita

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21 January 2018

Identifiers

DOI

10.1111/CGE.12801

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27197572%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

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