Laing distal myopathy

Common Name(s)

Laing distal myopathy

Laing distal myopathy is a slowly progressive muscle disorder that tends to begin in childhood.   Early symptoms include weakness in the feet and ankles, followed by weakness in the hands and wrists. Weakness in the feet leads to tightening of the Achilles tendon, an inability to lift the big toe, and a high-stepping walk.  Weakness in the hands makes it more difficult to lift the fingers, especially the third and fourth fingers. As the muscle weakness slowly progresses over the course of many years, other muscles of the body (e.g., neck, face, legs, hips, and shoulders) weaken. Most affected people remain mobile throughout life. Life expectancy is normal. Laing distal myopathy is caused by mutations in the MYH7 gene and is inherited in an autosomal dominant fashion.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Laing distal myopathy" for support, advocacy or research.

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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 "Laing distal myopathy" returned 5 free, full-text research articles on human participants. First 3 results:

Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture.
 

Author(s): Miora Feinstein-Linial, Massimo Buvoli, Ada Buvoli, Menachem Sadeh, Ron Dabby, Rachel Straussberg, Ilan Shelef, Daniel Dayan, Leslie Anne Leinwand, Ohad S Birk

Journal:

 

Human skeletal muscles express three major myosin heavy chain (MyHC) isoforms: MyHCIIx (MYH1) in fast type 2B muscle fibers, MyHCIIa (MYH2) in fast type 2A fibers and MyHCI/β-cardiac MyHC (MYH7) in slow type I skeletal fibers and cardiac ventricles. In line with its expression pattern, ...

Last Updated: 31 Dec 1969

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Complex sarcolemmal invaginations mimicking myotendinous junctions in a case of Laing early-onset distal myopathy.
 

Author(s): Gerald F Reis, Grant de la Motte, Rebecca Gooding, Nigel G Laing, Marta Margeta

Journal: Neuropathology. 2015 Dec;35(6):575-81.

 

Distal myopathies are a group of clinically and pathologically overlapping muscle diseases that are genetically complex and can represent a diagnostic challenge. Laing early-onset distal myopathy (MPD1) is a form of distal myopathy caused by mutations in the MYH7 gene, which encodes ...

Last Updated: 31 Dec 1969

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Clinical utility gene card for: Laing distal myopathy.
 

Author(s): Phillipa Lamont, William Wallefeld, Mark Davis, Bjarne Udd, Nigel Laing

Journal: Eur. J. Hum. Genet.. 2011 Mar;19(3):.

 

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

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The terms "Laing distal myopathy" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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