Results 321 to 330 of about 342,419 (394)

Syndrome of the Month: Bosma Arhinia Microphthalmia Syndrome

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
Katherine J. K. Patterson, John M. Graham Jr, Natalie D. Shaw   +2 more
wiley   +1 more source

OXPHOS complex deficiency in congenital myopathy: A systematic review

European Journal of Clinical Investigation, Volume 55, Issue 11, November 2025.
This systematic review assessed oxidative phosphorylation (OXPHOS) complex dysfunction in genetically confirmed congenital myopathies (CM). Among 5841 studies screened, 23 publications, comprising 45 CM cases, met the inclusion criteria. OXPHOS dysfunction was identified in 78% of cases, particularly where enzymology was performed, with RYR1 most ...
Megan J. du Preez, Maryke Schoonen, Monray E. Williams, Michelle Bisschoff, Francois H. van der Westhuizen   +4 more
wiley   +1 more source

In a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (OMDs), with LGMD2E (variant SGCB c.544A>C) being the most common. [PDF]

Mol Genet Genomic Med
Karthikeyan P, Kumar SH, Khanna-Gupta A, Bremadesam Raman L.   +3 more
europepmc   +1 more source

Teenage exercise is associated with earlier symptom onset in dysferlinopathy: A retrospective cohort study [PDF]

, 2018
et al,, Harms, Matthew, Moore, Ursula R, Pestronk, Alan   +3 more
core   +1 more source

A knock down strategy for rapid, generic, and versatile modelling of muscular dystrophies in 3D-tissue-engineered-skeletal muscle. [PDF]

Skelet Muscle
In 't Groen SLM, Franken M, Bock T, Krüger M, de Greef JC, Pijnappel WWMP.   +5 more
europepmc   +1 more source

Muscular dystrophies

The Lancet, 2019
Muscular dystrophies are primary diseases of muscle due to mutations in more than 40 genes, which result in dystrophic changes on muscle biopsy. Now that most of the genes responsible for these conditions have been identified, it is possible to accurately diagnose them and implement subtype-specific anticipatory care, as complications such as cardiac ...
Eugenio Mercuri, C. Bönnemann, Francesco Muntoni   +2 more
semanticscholar   +5 more sources

Duchenne muscular dystrophy [PDF]

Nature Reviews Disease Primers, 2021
Duchenne muscular dystrophy is a severe, progressive, muscle-wasting disease that leads to difficulties with movement and, eventually, to the need for assisted ventilation and premature death. The disease is caused by mutations in DMD (encoding dystrophin) that abolish the production of dystrophin in muscle.
Dongsheng Duan, Nathalie Goemans, Shin’ichi Takeda   +2 more
exaly   +5 more sources

The Muscular Dystrophies [PDF]

Seminars in Neurology, 1999
The muscular dystrophies are disorders of progressive muscular degeneration and weakness. As a group they display clinical heterogeneity that reflects the heterogeneity of molecular mechanisms responsible for them, and range from congenital to adulthood onset.
K. Flanigan
semanticscholar   +3 more sources