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

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

doi:10.1016/j.nmd.2013.02.009

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

Nigel F. Clarke, Kimberly Amburgey, James Teener, Sandra Camelo-Piragua, Akanchha Kesari, Jaya Punetha, Leigh B. Waddell, Mark Davis, Nigel G. Laing, Nicole Monnier, Kathryn N. North, Eric P. Hoffman, James J. Dowling

Research output: Contribution to journal › Article › peer-review

34 Scopus citations

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.

Original language	English
Pages (from-to)	432-436
Number of pages	5
Journal	Neuromuscular Disorders
Volume	23
Issue number	5
DOIs	https://doi.org/10.1016/j.nmd.2013.02.009
State	Published - May 2013
Externally published	Yes

Keywords

Axial myopathy
Congenital myopathies
Laing distal myopathy
MYH7

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title = "A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies",

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.",

keywords = "Axial myopathy, Congenital myopathies, Laing distal myopathy, MYH7",

author = "Clarke, {Nigel F.} and Kimberly Amburgey and James Teener and Sandra Camelo-Piragua and Akanchha Kesari and Jaya Punetha and Waddell, {Leigh B.} and Mark Davis and Laing, {Nigel G.} and Nicole Monnier and North, {Kathryn N.} and Hoffman, {Eric P.} and Dowling, {James J.}",

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doi = "10.1016/j.nmd.2013.02.009",

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AU - Clarke, Nigel F.

AU - Amburgey, Kimberly

AU - Teener, James

AU - Camelo-Piragua, Sandra

AU - Kesari, Akanchha

AU - Punetha, Jaya

AU - Waddell, Leigh B.

AU - Davis, Mark

AU - Laing, Nigel G.

AU - Monnier, Nicole

AU - North, Kathryn N.

AU - Hoffman, Eric P.

AU - Dowling, James J.

PY - 2013/5

Y1 - 2013/5

N2 - 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.

AB - 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.

KW - Axial myopathy

KW - Congenital myopathies

KW - Laing distal myopathy

KW - MYH7

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

Abstract

Keywords

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