RT Journal Article
T1 Clinical Utility Gene Card for: Becker muscular dystrophy.
A1 Coote, David
A1 Davis, Mark R
A1 Cabrera, Macarena
A1 Needham, Merrilee
A1 Laing, Nigel G
A1 Nowak, Kristen J
K1 Genetic counselling
K1 Neuromuscular disease
AB Variants in the dystrophin /DMD  gene can result in Becker or Duchene muscular dystrophy (BMD and DMD, respectively, also known as 'dystrophinopathies') almost solely in male individuals as DMD is located on the X chromosome . The difference in phenotype is usually dependent on whether the variant is in frame, resulting in an internally deleted, shorter, yet partially functional dystrophin protein (BMD), or out-of-frame resulting in no dystrophin protein (DMD) [1]. However, other clinical phenotypes may arise from a DMD variant such as isolated quadriceps myopathy [2]; asymptomatic hyperCKemia [3]; myalgia , cramps and rhabdomyolysis [4]; dilated cardiomyopathy [5]; isolated cognitive impairment [6]; and symptomatic female carriers [7].
PB Nature Publishing Group
YR 2018
FD 2018-07
LK http://hdl.handle.net/10668/12165
UL http://hdl.handle.net/10668/12165
LA en
NO Coote D, Davis MR, Cabrera M, Needham M, Laing NG, Nowak KJ. Clinical Utility Gene Card for: Becker muscular dystrophy. Eur J Hum Genet. 2018 Jul;26(7):1065-1071.
DS RISalud
RD Apr 9, 2025