A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features

to related objects

Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 2190-3883

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features ; volume:58 ; number:2 ; day:10 ; month:10 ; year:2016 ; pages:199-203 ; date:5.2017
Journal of applied genetics ; 58, Heft 2 (10.10.2016), 199-203, 5.2017

Keyword: Erbkrankheit
Erbschaden

Creator: Mroczek, Magdalena

Contributor: Kabzińska, Dagmara
Chrzanowska, Krystyna H.
Pronicki, Maciej
Kochański, Andrzej
SpringerLink (Online service)

DOI: 10.1007/s13353-016-0368-z

URN: urn:nbn:de:1111-2017043001

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:36 AM CEST

Data provider

This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.

Show original at data provider

Associated

Mroczek, Magdalena
Kabzińska, Dagmara
Chrzanowska, Krystyna H.
Pronicki, Maciej
Kochański, Andrzej
SpringerLink (Online service)

Other Objects (12)

Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation

Congenital Myopathy-1B due to RYR 1 Gene Mutation in Three Libyan Families

Nemaline myopathy with severe congenital manifestation

Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy

l-Carnitine ameliorates congenital myopathy in a tropomyosin 3 de novo mutation transgenic zebrafish

Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy

Novel KDM6A splice-site mutation in kabuki syndrome with congenital hydrocephalus: a case report

Phenotypic Heterogeneity in ORAI-1-Associated Congenital Myopathy

Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE

Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy

First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC

A Novel Splice Site Mutation in the FBN2 Gene in a Chinese Family with Congenital Contractural Arachnodactyly

Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation

Congenital Myopathy-1B due to RYR 1 Gene Mutation in Three Libyan Families

Nemaline myopathy with severe congenital manifestation

Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy

l-Carnitine ameliorates congenital myopathy in a tropomyosin 3 de novo mutation transgenic zebrafish

Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy

Novel KDM6A splice-site mutation in kabuki syndrome with congenital hydrocephalus: a case report

Phenotypic Heterogeneity in ORAI-1-Associated Congenital Myopathy

Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE

Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy

First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC

A Novel Splice Site Mutation in the FBN2 Gene in a Chinese Family with Congenital Contractural Arachnodactyly

Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation

Congenital Myopathy-1B due to RYR 1 Gene Mutation in Three Libyan Families

Nemaline myopathy with severe congenital manifestation

Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy

l-Carnitine ameliorates congenital myopathy in a tropomyosin 3 de novo mutation transgenic zebrafish

Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy

Novel KDM6A splice-site mutation in kabuki syndrome with congenital hydrocephalus: a case report

Phenotypic Heterogeneity in ORAI-1-Associated Congenital Myopathy

Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE

Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy

First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC

A Novel Splice Site Mutation in the FBN2 Gene in a Chinese Family with Congenital Contractural Arachnodactyly

Cultural heritage institutions wishing to register will find more information here.

Fields marked * need to be filled in.

Username*

Please enter your username

Email*

Please enter your email address

Please do not fill this field

First name

Last name

Password*

Please enter your password

Confirm password*

Please enter the same password

I have read the terms of use and the privacy policy for the collection of personal data and accept them. *

This field is required.

I would like to subscribe to the newsletter of the Deutsche Digitale Bibliothek. See newsletter subscription info.

Account created

Your "My DDB" account has been successfully created. Before you can log in to your account, you must click the confirmation link in the message we just sent to the email address you provided.

A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features

Object Details

References and Relationships

Classification and Topics

Contributors, Places and Time

Further information

Data provider

Associated

Other Objects (12)

Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation

Congenital Myopathy-1B due to RYR 1 Gene Mutation in Three Libyan Families

Nemaline myopathy with severe congenital manifestation

Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy

l-Carnitine ameliorates congenital myopathy in a tropomyosin 3 de novo mutation transgenic zebrafish

Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy

Novel KDM6A splice-site mutation in kabuki syndrome with congenital hydrocephalus: a case report

Phenotypic Heterogeneity in ORAI-1-Associated Congenital Myopathy

Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE

Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy

First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC

A Novel Splice Site Mutation in the FBN2 Gene in a Chinese Family with Congenital Contractural Arachnodactyly

Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation

Congenital Myopathy-1B due to RYR 1 Gene Mutation in Three Libyan Families

Nemaline myopathy with severe congenital manifestation

Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy

l-Carnitine ameliorates congenital myopathy in a tropomyosin 3 de novo mutation transgenic zebrafish

Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy

Novel KDM6A splice-site mutation in kabuki syndrome with congenital hydrocephalus: a case report

Phenotypic Heterogeneity in ORAI-1-Associated Congenital Myopathy

Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE

Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy

First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC

A Novel Splice Site Mutation in the FBN2 Gene in a Chinese Family with Congenital Contractural Arachnodactyly

Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation

Congenital Myopathy-1B due to RYR 1 Gene Mutation in Three Libyan Families

Nemaline myopathy with severe congenital manifestation

Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy

l-Carnitine ameliorates congenital myopathy in a tropomyosin 3 de novo mutation transgenic zebrafish

Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy

Novel KDM6A splice-site mutation in kabuki syndrome with congenital hydrocephalus: a case report

Phenotypic Heterogeneity in ORAI-1-Associated Congenital Myopathy

Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE

Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy

First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC

A Novel Splice Site Mutation in the FBN2 Gene in a Chinese Family with Congenital Contractural Arachnodactyly

Related objects

Reset password