Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novel de novo p.(Leu1877Pro) mutation in MYH2

Macarena Cabrera-Serrano, V.A. Fabian, Jordan Boutilier, C. Wise, F. Faiz, Phillipa Lamont, Nigel Laing

Research output: Contribution to journalReview article

4 Citations (Scopus)
189 Downloads (Pure)

Abstract

© 2014 John Wiley & Sons A/S. An MYH2 mutation p.(Glu706Lys) was originally described in a family with autosomal dominant inheritance, where the affected family members presented with multiple congenital contractures and ophthalmoplegia, progressing to a proximal myopathy in adulthood. Another patient with a dominant mutation p.(Leu1870Pro) was described, presenting as a congenital myopathy with ophthalmoplegia. Here, we present a patient with symptoms beginning at age 16 years, of prominent distal but also proximal weakness, bulbar involvement and ophthalmoplegia. Initially, clinically classified as oculopharyngodistal myopathy, the patient was found to carry a novel, de novo MYH2 mutation c.5630T>C p.(Leu1877Pro). This expands the phenotype of dominant MYH2 myopathies with the clinical phenotype overlapping the oculopharyngodistal myopathy spectrum.
Original languageEnglish
Pages (from-to)573–578
JournalClinical Genetics
Volume88
Issue number6
DOIs
Publication statusPublished - Dec 2015

Fingerprint

Distal Myopathies
Ophthalmoplegia
Muscular Diseases
Mutation
Myotonia Congenita
Phenotype
Contracture
Nuclear Family
Oculopharyngodistal Myopathy

Cite this

Cabrera-Serrano, Macarena ; Fabian, V.A. ; Boutilier, Jordan ; Wise, C. ; Faiz, F. ; Lamont, Phillipa ; Laing, Nigel. / Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novel de novo p.(Leu1877Pro) mutation in MYH2. In: Clinical Genetics. 2015 ; Vol. 88, No. 6. pp. 573–578.
@article{e675af62c92e44f88aa1417f56e329d0,
title = "Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novel de novo p.(Leu1877Pro) mutation in MYH2",
abstract = "{\circledC} 2014 John Wiley & Sons A/S. An MYH2 mutation p.(Glu706Lys) was originally described in a family with autosomal dominant inheritance, where the affected family members presented with multiple congenital contractures and ophthalmoplegia, progressing to a proximal myopathy in adulthood. Another patient with a dominant mutation p.(Leu1870Pro) was described, presenting as a congenital myopathy with ophthalmoplegia. Here, we present a patient with symptoms beginning at age 16 years, of prominent distal but also proximal weakness, bulbar involvement and ophthalmoplegia. Initially, clinically classified as oculopharyngodistal myopathy, the patient was found to carry a novel, de novo MYH2 mutation c.5630T>C p.(Leu1877Pro). This expands the phenotype of dominant MYH2 myopathies with the clinical phenotype overlapping the oculopharyngodistal myopathy spectrum.",
author = "Macarena Cabrera-Serrano and V.A. Fabian and Jordan Boutilier and C. Wise and F. Faiz and Phillipa Lamont and Nigel Laing",
year = "2015",
month = "12",
doi = "10.1111/cge.12552",
language = "English",
volume = "88",
pages = "573–578",
journal = "Clinical Genetics",
issn = "0009-9163",
publisher = "MUNKSGAARD INT PUBL LTD",
number = "6",

}

Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novel de novo p.(Leu1877Pro) mutation in MYH2. / Cabrera-Serrano, Macarena; Fabian, V.A.; Boutilier, Jordan; Wise, C.; Faiz, F.; Lamont, Phillipa; Laing, Nigel.

In: Clinical Genetics, Vol. 88, No. 6, 12.2015, p. 573–578.

Research output: Contribution to journalReview article

TY - JOUR

T1 - Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novel de novo p.(Leu1877Pro) mutation in MYH2

AU - Cabrera-Serrano, Macarena

AU - Fabian, V.A.

AU - Boutilier, Jordan

AU - Wise, C.

AU - Faiz, F.

AU - Lamont, Phillipa

AU - Laing, Nigel

PY - 2015/12

Y1 - 2015/12

N2 - © 2014 John Wiley & Sons A/S. An MYH2 mutation p.(Glu706Lys) was originally described in a family with autosomal dominant inheritance, where the affected family members presented with multiple congenital contractures and ophthalmoplegia, progressing to a proximal myopathy in adulthood. Another patient with a dominant mutation p.(Leu1870Pro) was described, presenting as a congenital myopathy with ophthalmoplegia. Here, we present a patient with symptoms beginning at age 16 years, of prominent distal but also proximal weakness, bulbar involvement and ophthalmoplegia. Initially, clinically classified as oculopharyngodistal myopathy, the patient was found to carry a novel, de novo MYH2 mutation c.5630T>C p.(Leu1877Pro). This expands the phenotype of dominant MYH2 myopathies with the clinical phenotype overlapping the oculopharyngodistal myopathy spectrum.

AB - © 2014 John Wiley & Sons A/S. An MYH2 mutation p.(Glu706Lys) was originally described in a family with autosomal dominant inheritance, where the affected family members presented with multiple congenital contractures and ophthalmoplegia, progressing to a proximal myopathy in adulthood. Another patient with a dominant mutation p.(Leu1870Pro) was described, presenting as a congenital myopathy with ophthalmoplegia. Here, we present a patient with symptoms beginning at age 16 years, of prominent distal but also proximal weakness, bulbar involvement and ophthalmoplegia. Initially, clinically classified as oculopharyngodistal myopathy, the patient was found to carry a novel, de novo MYH2 mutation c.5630T>C p.(Leu1877Pro). This expands the phenotype of dominant MYH2 myopathies with the clinical phenotype overlapping the oculopharyngodistal myopathy spectrum.

U2 - 10.1111/cge.12552

DO - 10.1111/cge.12552

M3 - Review article

VL - 88

SP - 573

EP - 578

JO - Clinical Genetics

JF - Clinical Genetics

SN - 0009-9163

IS - 6

ER -