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

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 - 2013/1

Y1 - 2013/1

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

SN - 0960-8966

VL - 23

SP - 25

EP - 28

JO - Journal of Neuromuscular Diseases

JF - Journal of Neuromuscular Diseases

IS - 1

ER -