Genetic modifiers of D uchenne and facioscapulohumeral muscular dystrophies

RM Hightower, MS Alexander - Muscle & nerve, 2018 - Wiley Online Library
Muscular dystrophy is defined as the progressive wasting of skeletal muscles that is caused
by inherited or spontaneous genetic mutations. Next‐generation sequencing has greatly …

Therapeutic advances in muscular dystrophy

DG Leung, KR Wagner - Annals of neurology, 2013 - Wiley Online Library
The muscular dystrophies comprise a heterogeneous group of genetic disorders that
produce progressive skeletal muscle weakness and wasting. There has been rapid growth …

Modifier genes and their effect on Duchenne muscular dystrophy

AH Vo, EM McNally - Current opinion in neurology, 2015 - journals.lww.com
Genetic modifiers can serve as biomarkers for outcomes in DMD. Modifiers can alter
strength and ambulation in muscular dystrophy, and these same features can be used as …

Is it time for genetic modifiers to predict prognosis in Duchenne muscular dystrophy?

L Bello, EP Hoffman, E Pegoraro - Nature Reviews Neurology, 2023 - nature.com
Patients with Duchenne muscular dystrophy (DMD) show clinically relevant phenotypic
variability, despite sharing the same primary biochemical defect (dystrophin deficiency) …

Update on muscular dystrophies with focus on novel treatments and biomarkers

N Datta, PS Ghosh - Current neurology and neuroscience reports, 2020 - Springer
Abstract Purpose of Review Muscular dystrophies are a heterogeneous group of inherited
muscular disorders characterized by progressive muscle weakness and in many cases …

[HTML][HTML] Genetic modifiers of muscular dystrophy: implications for therapy

A Heydemann, KR Doherty, EM McNally - Biochimica et Biophysica Acta …, 2007 - Elsevier
The genetic understanding of the muscular dystrophies has advanced considerably in the
last two decades. Over 25 different individual genes are now known to produce muscular …

The therapeutic potential of skeletal muscle plasticity in Duchenne muscular dystrophy: phenotypic modifiers as pharmacologic targets

V Ljubicic, M Burt, BJ Jasmin - The FASEB Journal, 2014 - Wiley Online Library
Duchenne muscular dystrophy (DMD) is a life‐limiting, neuromuscular disorder that causes
progressive, severe muscle wasting in boys and young men. Although there is no cure …

[HTML][HTML] Current pharmacological strategies for Duchenne muscular dystrophy

S Yao, Z Chen, Y Yu, N Zhang, H Jiang… - Frontiers in Cell and …, 2021 - frontiersin.org
Duchenne muscular dystrophy (DMD) is a lethal, X-linked neuromuscular disorder caused
by the absence of dystrophin protein, which is essential for muscle fiber integrity. Loss of …

Genetic modifiers for neuromuscular diseases

KM Lamar, EM McNally - Journal of neuromuscular diseases, 2014 - content.iospress.com
Neuromuscular diseases, which encompass disorders that affect muscle and its innervation,
are highly heritable. Genetic diagnosis now frequently pinpoints the primary mutation …

[HTML][HTML] Muscle and cardiac therapeutic strategies for Duchenne muscular dystrophy: past, present, and future

A Łoboda, J Dulak - Pharmacological Reports, 2020 - Springer
Background Duchenne muscular dystrophy (DMD) is a severe X-linked neuromuscular
childhood disorder that causes progressive muscle weakness and degeneration and results …