Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q (Q74257432)

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9 November 2019

title

Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q (English)

1 reference

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arrhythmogenic right ventricular cardiomyopathy

9 November 2019

main subject

0 references

myofibrillar myopathy

1 reference

A Melberg

1

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9 November 2019

A Oldfors

2

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9 November 2019

C Blomström-Lundqvist

3

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9 November 2019

E Stålberg

4

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9 November 2019

B Carlsson

5

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9 November 2019

E Larrson

6

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9 November 2019

C Lidell

7

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9 November 2019

K E Eeg-Olofsson

8

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9 November 2019

G Wikström

9

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9 November 2019

G Henriksson

10

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9 November 2019

N Dahl

11

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9 November 2019

publication date

1 November 1999

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9 November 2019

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9 November 2019

volume

46

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9 November 2019

issue

5

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9 November 2019

page(s)

684-692

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Missense mutations in desmin associated with familial cardiac and skeletal myopathy

9 November 2019

cites work

1 reference

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A dysfunctional desmin mutation in a patient with severe generalized myopathy

21 January 2018

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A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy

21 January 2018

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Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy

21 January 2018

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Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases

21 January 2018

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Myofibrillar Myopathy. III. Abnormal Expression of Cyclin-dependent Kinases and Nuclear Proteins

21 January 2018

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Muscle-nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadism

21 January 2018

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Multi-MUP EMG analysis — a two year experience in daily clinical work

21 January 2018

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Early-onset myopathy with tubular aggregates

21 January 2018

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Ventricular dimensions and wall motion assessed by echocardiography in patients with arrhythmogenic right ventricular dysplasia

21 January 2018

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The Sjögren-Larsson syndrome gene is close to D17S805 as determined by linkage analysis and allelic association.

21 January 2018

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A comprehensive genetic map of the human genome based on 5,264 microsatellites

21 January 2018

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A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and intermediate (skeletin) filaments

21 January 2018

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Autosomal dominant distal myopathy with desmin storage: a clinicopathologic and electrophysiologic study of a large kinship

21 January 2018

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Familial cardiomyopathy and distal myopathy with abnormal desmin accumulation and migration

21 January 2018

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Asymptomatic familial hyperCKemia associated with desmin accumulation in skeletal muscle

21 January 2018

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Restrictive Cardiomyopathy, Atrioventricular Block and Mild to Subclinical Myopathy in Patients With Desmin-Immunoreactive Material Deposits

21 January 2018

1 reference

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Hereditary distal myopathy with granulo-filamentous cytoplasmic inclusions containing desmin, dystrophin and vimentin

21 January 2018

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Familial desmin myopathies and cytoplasmic body myopathies

21 January 2018

1 reference

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The wide spectrum of myofibrillar myopathy suggests a multifactorial etiology and pathogenesis

21 January 2018

1 reference

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Desmin myopathy: a multisystem disorder involving skeletal, cardiac, and smooth muscle

21 January 2018

1 reference

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Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International S

21 January 2018

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A long term follow up of 15 patients with arrhythmogenic right ventricular dysplasia

21 January 2018

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Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/dysplasia: a multicenter study.

21 January 2018

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Gene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21-23.

21 January 2018

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Complementary physical and genetic techniques map the vinculin (VCL) gene on chromosome 10q

21 January 2018

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A novel family of cathepsin L-like (CTSLL) sequences on human chromosome 10q and related transcripts

21 January 2018

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Regulation of Calcyclin (S100A6) Binding by Alternative Splicing in the N-terminal Regulatory Domain of Annexin XI Isoforms

21 January 2018

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Localization of the CAMKG gene encoding gamma isoforms of multifunctional calcium/calmodulin-dependent protein kinase (CaM kinase) to human chromosome 10 band q22 and mouse chromosome 14.

21 January 2018

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The Order and Transcriptional Orientation of the Human COL13A1 and P4HA Genes on Chromosome 10 Long Arm Determined by High-Resolution FISH

21 January 2018

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The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23-q24

21 January 2018

1 reference

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A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43

21 January 2018

1 reference

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A new locus for arrhythmogenic right ventricular dysplasia on the long arm of chromosome 14.

21 January 2018

1 reference

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ARVD4, a new locus for arrhythmogenic right ventricular cardiomyopathy, maps to chromosome 2 long arm

21 January 2018

1 reference

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Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21

21 January 2018

1 reference

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10.1002/1531-8249(199911)46:5<684::AID-ANA2>3.0.CO;2-#

21 January 2018

Identifiers

DOI

1 reference

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9 November 2019

1 reference