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About 433 results

ALLMedicine™ Congenital Myopathies Center

Research & Reviews  162 results

Primary cilia in satellite cells are the mechanical sensors for muscle hypertrophy.
https://doi.org/10.1073/pnas.2103615119
Proceedings of the National Academy of Sciences of the Un... Li W, Zhu Z et. al.

Jun 8th, 2022 - Skeletal muscle atrophy is commonly associated with aging, immobilization, muscle unloading, and congenital myopathies. Generation of mature muscle cells from skeletal muscle satellite cells (SCs) is pivotal in repairing muscle tissue. Exercise th...

A custom ddPCR method for the detection of copy number variations in the nebulin tripli...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9109913
PloS One; Sagath L, Lehtokari VL et. al.

May 17th, 2022 - The human genome contains repetitive regions, such as segmental duplications, known to be prone to copy number variation. Segmental duplications are highly identical and homologous sequences, posing a specific challenge for most mutation detection...

Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myo...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9013059
Acta Neuropathologica Communications; Fusto A, Cassandrini D et. al.

Apr 17th, 2022 - Mutations in the RYR1 gene, encoding ryanodine receptor 1 (RyR1), are a well-known cause of Central Core Disease (CCD) and Multi-minicore Disease (MmD). We screened a cohort of 153 patients carrying an histopathological diagnosis of core myopathy ...

Clinical and genetic features of infancy-onset congenital myopathies from a Chinese pae...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8790871
BMC Pediatrics; Zhang Y, Yan H et. al.

Jan 28th, 2022 - Congenital myopathies are a group of rare neuromuscular diseases characterized by specific histopathological features. The relationship between the pathologies and the genetic causes is complex, and the prevalence of myopathy-causing genes varies ...

Congenital Myopathies
https://www.merckmanuals.com/professional/pediatrics/inherited-muscular-disorders/congenital-myopathies

Jan 1st, 2022 - Congenital myopathy is a term sometimes applied to hundreds of distinct neuromuscular disorders that may be present at birth, but it is usually reserved for a group of rare, inherited, primary muscle disorders that cause hypotonia and weakness at ...

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Clinicaltrials.gov  7 results

Molecular and Genetic Studies of Congenital Myopathies
https://clinicaltrials.gov/ct2/show/NCT00272883

Sep 8th, 2021 - The Congenital Myopathy Research Program consists of a group of scientists and healthcare providers all working to better understand the congenital myopathies. We are taking two approaches to reach our research goals. The first involves identifyin...

Bullying in Youth With Muscular Dystrophy and Congenital Myopathies
https://clinicaltrials.gov/ct2/show/NCT04733976

Feb 2nd, 2021 - Bullying is an epidemic in Canada. At least one in three Canadian youth report having been bullied. Bullying is defined as intentional aggressive behaviour with the intention to harm the victim. It is characterized by an imbalance of power between...

Contractile Cross Sectional Areas and Muscle Strength in Patients With Congenital Myopathies
https://clinicaltrials.gov/ct2/show/NCT03018184

Apr 8th, 2019 - Patients with inherited muscle diseases can have several miscellaneous problems in their muscles, which can be both structural and metabolic. Depending on the specific disease multiple symptoms may be present. All the different diseases can affect...

A Pilot Study of Pyridostigmine in Pompe Disease
https://clinicaltrials.gov/ct2/show/NCT02357225

May 15th, 2018 - Pompe is a rare disease, which occurs in approximately 1 per 40,000 births. It is a progressive and often fatal neuromuscular disorder resulting from mutation in the gene for acid alpha-glucosidase (GAA), an enzyme necessary to degrade glycogen. A...

Muscle Oxygenation in Effort in Neuromuscular Diseases
https://clinicaltrials.gov/ct2/show/NCT02789059

May 19th, 2017 - This study is a prospective physiological study in a pathological condition (neuromuscular diseases). 5 groups of voluntary participants will be investigated: 1. 20 subjects affected by Dystrophin related muscular dystrophy (Becker Muscular Dystro...

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News  2 results

Foundation Develops Congenital Myopathy Guide for Families
https://www.mdedge.com/pediatrics/article/100405/rare-diseases/foundation-develops-congenital-myopathy-guide-families

Jun 11th, 2015 - The Joshua Frase Foundation has developed a publication titled “The Care of Congenital Myopathy: A Guide for Families” in response to requests from families. This work began as a translation into easily understood language from the Consensus State.

Targeted Treatments for Inherited Neuromuscular Diseases of Childhood
https://www.medscape.com/viewarticle/932522

Abstract and Introduction Abstract In the past decade, the number of genes linked to neuromuscular diseases of childhood has expanded dramatically, and this genetic information is forming the basis for gene-specific and even mutation-specific ther...

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Patient Education  2 results see all →