Distal Myopathy

Common Name(s)

Distal Myopathy

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Distal Myopathy" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Distal Myopathy" returned 41 free, full-text research articles on human participants. First 3 results:

New mutation of the desmin gene identified in an extended Indian pedigree presenting with distal myopathy and cardiac disease.
 

Author(s): Atchayaram Nalini, Narayanappa Gayathri, Pascale Richard, Ana-Maria Cobo, J Andoni Urtizberea

Journal: Neurol India. ;61(6):622-6.

 

In this report, we describe a new mutation located in the coiled 1B domain of desmin and associated with a predominant cardiac involvement and a high degree of cardiac sudden death in a large Indian pedigree with 12 affected members. The index cases was 38-year-old man who presented ...

Last Updated: 20 Jan 2014

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Loss of actomyosin regulation in distal arthrogryposis myopathy due to mutant myosin binding protein-C slow.
 

Author(s): Maegen A Ackermann, Puja D Patel, Jane Valenti, Yasuharu Takagi, Earl Homsher, James R Sellers, Aikaterini Kontrogianni-Konstantopoulos

Journal: FASEB J.. 2013 Aug;27(8):3217-28.

 

Myosin binding protein C (MyBP-C) is expressed in striated muscles, where it plays key roles in the modulation of actomyosin cross-bridges. Slow MyBP-C (sMyBP-C) consists of multiple variants sharing common domains but also containing unique segments within the NH2 and COOH termini. ...

Last Updated: 2 Aug 2013

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Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing.
 

Author(s): Mariacristina Scoto, Thomas Cullup, Sebahattin Cirak, Shu Yau, Adnan Y Manzur, Lucy Feng, Thomas S Jacques, Glenn Anderson, Stephen Abbs, Caroline Sewry, Heinz Jungbluth, Francesco Muntoni

Journal: Eur. J. Hum. Genet.. 2013 Nov;21(11):1249-52.

 

Recessive nebulin (NEB) mutations are a common cause of nemaline myopathy (NM), typically characterized by generalized weakness of early-onset and nemaline rods on muscle biopsy. Exceptional adult cases with additional cores and an isolated distal weakness have been reported. The ...

Last Updated: 17 Oct 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Distal Myopathy" returned 1 free, full-text review articles on human participants. First 3 results:

Perspectives on distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy: contributions from an animal model. Lack of sialic acid, a central determinant in sugar chains, causes myopathy?
 

Author(s): M C V Malicdan, S Noguchi, I Nishino

Journal: Acta Myol. 2007 Dec;26(3):171-5.

 

Distal myopathy with rimmed vacuoles (DMRV) or hereditary inclusion body myopathy (hIBM) is an adult onset slowly progressive myopathy secondary to mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene that encodes a bifunctional enzyme which catalyzes ...

Last Updated: 23 Jul 2008

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Hereditary Inclusion Body Myopathy-Disease Monitoring (HIBM-DMP): A Combined Registry and Prospective Observational Natural History Study to Assess HIBM Disease
 

Status: Recruiting

Condition Summary: Hereditary Inclusion Body Myopathy; GNE Myopathy; Nonaka Disease; Quadriceps Sparing Myopathy (QSM); Distal Myopathy With Rimmed Vacuoles (DMRV)

 

Last Updated: 11 Sep 2014

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A Natural History Study of Patients With Hereditary Inclusion Body Myopathy
 

Status: Recruiting

Condition Summary: Hereditary Inclusion Body Myopathy

 

Last Updated: 24 Apr 2014

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Wrist Extension Dynasplint (WED) Distal Radius Fracture
 

Status: Not yet recruiting

Condition Summary: Distal Radius Fracture; Wrist Contracture

 

Last Updated: 30 Apr 2012

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