AustralieFrV1, Main, Exploration, bibRecord, 004861

A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies

Identifieur interne : 004861 ( Main/Exploration ); précédent : 004860; suivant : 004862

A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies

Auteurs : Nigel F. Clarke [Australie] ; Kimberly Amburgey [États-Unis] ; James Teener [États-Unis] ; Sandra Camelo-Piragua [États-Unis] ; Akanchha Kesari [États-Unis] ; Jaya Punetha [États-Unis] ; Leigh B. Waddell [Australie] ; Mark Davis [Australie] ; Nigel G. Laing [Australie] ; Nicole Monnier [France] ; Kathryn N. North [Australie] ; Eric P. Hoffman [États-Unis] ; James J. Dowling [États-Unis]

Source :

Neuromuscular disorders : NMD [ 0960-8966 ] ; 2013.

RBID : PMC:4103162

Abstract

MYH7 mutations are an established cause of Laing distal myopathy, myosin storage myopathy, and cardiomyopathy, as well as additional myopathy subtypes. We report a novel MYH7 mutation (p.Leu1597Arg) that arose de novo in two unrelated probands. Proband 1 has a myopathy characterized by distal weakness and prominent contractures and histopathology typical of multi-minicore disease. Proband 2 has an axial myopathy and histopathology consistent with congenital fiber type disproportion. These cases highlight the broad spectrum of clinical and histological patterns associated with MYH7 mutations, and provide further evidence that MYH7 is likely responsible for a greater proportion of congenital myopathies than currently appreciated.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4103162

DOI: 10.1016/j.nmd.2013.02.009
PubMed: 23478172
PubMed Central: 4103162

Affiliations:

Le document en format XML

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<front><div type="abstract" xml:lang="en"><p id="P1"><italic>MYH7</italic>
 mutations are an established cause of Laing distal myopathy, myosin storage myopathy, and cardiomyopathy, as well as additional myopathy subtypes. We report a novel <italic>MYH7</italic>
 mutation (p.Leu1597Arg) that arose <italic>de novo</italic>
 in two unrelated probands. Proband 1 has a myopathy characterized by distal weakness and prominent contractures and histopathology typical of multi-minicore disease. Proband 2 has an axial myopathy and histopathology consistent with congenital fiber type disproportion. These cases highlight the broad spectrum of clinical and histological patterns associated with <italic>MYH7</italic>
 mutations, and provide further evidence that <italic>MYH7</italic>
 is likely responsible for a greater proportion of congenital myopathies than currently appreciated.</p>
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   |area=    AustralieFrV1
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   |étape=   Exploration
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   |clé=     PMC:4103162
   |texte=   A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies
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Serveur d'exploration sur les relations entre la France et l'Australie

A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies

A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies

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	Serveur d'exploration sur les relations entre la France et l'Australie
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