A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy

about

A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy

Item

http://www.wikidata.org/entity/Q58696811

description

scientific article published on 29 August 2018

@en

wetenschappelijk artikel

@nl

наукова стаття, опублікована в серпні 2018

@uk

name

A novel SPEG mutation causes n ...... nt with centronuclear myopathy

@en

A novel SPEG mutation causes n ...... nt with centronuclear myopathy

@nl

type

Item

label

A novel SPEG mutation causes n ...... nt with centronuclear myopathy

@en

A novel SPEG mutation causes n ...... nt with centronuclear myopathy

@nl

prefLabel

A novel SPEG mutation causes n ...... nt with centronuclear myopathy

@en

A novel SPEG mutation causes n ...... nt with centronuclear myopathy

@nl

P1476

A novel SPEG mutation causes n ...... nt with centronuclear myopathy

@en

P2093

Andreas Hahn

http://www.w3.org/2001/XMLSchema#string

Anne Schänzer

http://www.w3.org/2001/XMLSchema#string

Birgit Kampschulte

http://www.w3.org/2001/XMLSchema#string

Haicui Wang

http://www.w3.org/2001/XMLSchema#string

Hannah Schlierbach

http://www.w3.org/2001/XMLSchema#string

Hülya-Sevcan Daimagüler

http://www.w3.org/2001/XMLSchema#string

Jutta Petzinger

http://www.w3.org/2001/XMLSchema#string

Sebahattin Cirak

http://www.w3.org/2001/XMLSchema#string

Thushiha Logeswaran

http://www.w3.org/2001/XMLSchema#string

P2860

Approach to the diagnosis of congenital myopathies

Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies

Disruption of striated preferentially expressed gene locus leads to dilated cardiomyopathy in mice

Exon 3 deletion of RYR2 encoding cardiac ryanodine receptor is associated with left ventricular non-compaction.

SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy

Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction.

Developmental myosins: expression patterns and functional significance.

Quantitative teased-fiber and histologic studies of human sural nerve during postnatal development.

SPEG (Striated Muscle Preferentially Expressed Protein Kinase) Is Essential for Cardiac Function by Regulating Junctional Membrane Complex Activity.

Qualitative and quantitative morphology of human sural nerve at different ages.

P2888

s40478-018-0589-y

P304

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1186/S40478-018-0589-Y

http://www.w3.org/2001/XMLSchema#string

P407

English

P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Harald Ehrhardt

P577

2018-08-29T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P6179

1106416210

http://www.w3.org/2001/XMLSchema#string

P698

30157964

http://www.w3.org/2001/XMLSchema#string

P932

6114030

http://www.w3.org/2001/XMLSchema#string