Becker muscular dystrophy with widespread muscle hypertrophy and a non-sense mutation of exon 2

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Becker muscular dystrophy with widespread muscle hypertrophy and a non-sense mutation of exon 2. / Witting, Nanna; Duno, M; Vissing, J.

In: Neuromuscular Disorders, Vol. 23, No. 1, 2013, p. 25-8.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Witting, N, Duno, M & Vissing, J 2013, 'Becker muscular dystrophy with widespread muscle hypertrophy and a non-sense mutation of exon 2', Neuromuscular Disorders, vol. 23, no. 1, pp. 25-8. https://doi.org/10.1016/j.nmd.2012.07.004

APA

Witting, N., Duno, M., & Vissing, J. (2013). Becker muscular dystrophy with widespread muscle hypertrophy and a non-sense mutation of exon 2. Neuromuscular Disorders, 23(1), 25-8. https://doi.org/10.1016/j.nmd.2012.07.004

Vancouver

Witting N, Duno M, Vissing J. Becker muscular dystrophy with widespread muscle hypertrophy and a non-sense mutation of exon 2. Neuromuscular Disorders. 2013;23(1):25-8. https://doi.org/10.1016/j.nmd.2012.07.004

Author

Witting, Nanna ; Duno, M ; Vissing, J. / Becker muscular dystrophy with widespread muscle hypertrophy and a non-sense mutation of exon 2. In: Neuromuscular Disorders. 2013 ; Vol. 23, No. 1. pp. 25-8.

Bibtex

@article{d4307324da174316ada1b2a2d49f1e23,
title = "Becker muscular dystrophy with widespread muscle hypertrophy and a non-sense mutation of exon 2",
abstract = "Becker muscular dystrophy features progressive proximal weakness, wasting and often focal hypertrophy. We present a patient with pain and cramps from adolescence. Widespread muscle hypertrophy, preserved muscle strength and a 10-20-fold raised CPK were noted. Muscle biopsy was dystrophic, and Western blot showed a 95% reduction of dystrophin levels. Genetic analyses revealed a non-sense mutation in exon 2 of the dystrophin gene. This mutation is predicted to result in a Duchenne phenotype, but resulted in a mild Becker muscular dystrophy with widespread muscle hypertrophy. We suggest that this unusual phenotype is caused by translation re-initiation downstream from the mutation site.",
author = "Nanna Witting and M Duno and J Vissing",
note = "Copyright {\textcopyright} 2012 Elsevier B.V. All rights reserved.",
year = "2013",
doi = "10.1016/j.nmd.2012.07.004",
language = "English",
volume = "23",
pages = "25--8",
journal = "Journal of Neuromuscular Diseases",
issn = "0960-8966",
publisher = "Elsevier",
number = "1",

}

RIS

TY - JOUR

T1 - Becker muscular dystrophy with widespread muscle hypertrophy and a non-sense mutation of exon 2

AU - Witting, Nanna

AU - Duno, M

AU - Vissing, J

N1 - Copyright © 2012 Elsevier B.V. All rights reserved.

PY - 2013

Y1 - 2013

N2 - Becker muscular dystrophy features progressive proximal weakness, wasting and often focal hypertrophy. We present a patient with pain and cramps from adolescence. Widespread muscle hypertrophy, preserved muscle strength and a 10-20-fold raised CPK were noted. Muscle biopsy was dystrophic, and Western blot showed a 95% reduction of dystrophin levels. Genetic analyses revealed a non-sense mutation in exon 2 of the dystrophin gene. This mutation is predicted to result in a Duchenne phenotype, but resulted in a mild Becker muscular dystrophy with widespread muscle hypertrophy. We suggest that this unusual phenotype is caused by translation re-initiation downstream from the mutation site.

AB - Becker muscular dystrophy features progressive proximal weakness, wasting and often focal hypertrophy. We present a patient with pain and cramps from adolescence. Widespread muscle hypertrophy, preserved muscle strength and a 10-20-fold raised CPK were noted. Muscle biopsy was dystrophic, and Western blot showed a 95% reduction of dystrophin levels. Genetic analyses revealed a non-sense mutation in exon 2 of the dystrophin gene. This mutation is predicted to result in a Duchenne phenotype, but resulted in a mild Becker muscular dystrophy with widespread muscle hypertrophy. We suggest that this unusual phenotype is caused by translation re-initiation downstream from the mutation site.

U2 - 10.1016/j.nmd.2012.07.004

DO - 10.1016/j.nmd.2012.07.004

M3 - Journal article

C2 - 22939275

VL - 23

SP - 25

EP - 28

JO - Journal of Neuromuscular Diseases

JF - Journal of Neuromuscular Diseases

SN - 0960-8966

IS - 1

ER -

ID: 48603923