ALLMedicine™ Congenital Muscular Dystrophy Center

Jun 22nd, 2022 - Alterations in the LMNA gene cause a wide spectrum of diseases collectively called laminopathies. LMNA-associated congenital muscular dystrophy is a form of laminopathy, which usually causes infantile onset of muscle weakness, predominantly in the...

May 27th, 2022 - Mutations in the LMNA gene, which codes for lamins A and C, proteins of the nuclear lamina, are responsible for a wide spectrum of pathologies, including a group specifically affecting striated skeletal and cardiac muscles, with cardiac involvemen...

Apr 29th, 2022 - Rationale: Patients with mutations in the SELENON gene suffer from slowly progressive congenital muscular dystrophy with early onset rigidity of the spine and potentially life-threatening respiratory insufficiency. The protein encoded by SELENON, ...

Mar 16th, 2022 - To investigate the characteristics of respiratory involvement in Chinese paediatric neuromuscular disease (NMD) at early stage and to explore convenient monitoring methods. Children with NMD (age < 18) diagnosed at a multidisciplinary joint NMD cl...

Feb 16th, 2022 - Ullrich congenital muscular dystrophy (UCMD) is a severe form of muscular dystrophy caused by the loss of function of collagen VI, a critical component of the muscle-tendon matrix. Magnetic resonance imaging of UCMD patients' muscles shows a pecul...

Nov 17th, 2010 - Congenital muscular dystrophies are a group of rare neuromuscular disorders with a wide spectrum of clinical phenotypes. Recent advances in understanding the molecular pathogenesis of congenital muscular dystrophy have enabled better diagnosis. Ho...

May 27th, 2022 - Mutations in the LMNA gene, which codes for lamins A and C, proteins of the nuclear lamina, are responsible for a wide spectrum of pathologies, including a group specifically affecting striated skeletal and cardiac muscles, with cardiac involvemen...

Apr 29th, 2022 - Rationale: Patients with mutations in the SELENON gene suffer from slowly progressive congenital muscular dystrophy with early onset rigidity of the spine and potentially life-threatening respiratory insufficiency. The protein encoded by SELENON, ...

Feb 7th, 2022 - LAMA2-related congenital muscular dystrophy (LAMA2-CMD) is caused by a deficiency of the α2 subunit of laminin due to mutation of the LAMA2 gene. Typical LAMA2-CMD cases present with prominent hypotonia and weakness in infancy. Congenital contract...

Jan 18th, 2022 - The investigational product used is Autologous (from self) adipose-derived (from fat) pure mesenchymal stem cells.

Jan 4th, 2022 - Muscular dystrophies are a diverse group of inherited disorders characterized by progressive muscle weakness and wasting. The disorders are caused by mutations, or changes, in genes. Genes are tiny pieces of inherited material (DNA) that direct th...

May 6th, 2020 - May 6 (Reuters) - SANTHERA PHARMACEUTICALS HOLDING AG : * SANTHERA SIGNS AGREEMENTS IN GENE THERAPY RESEARCH FOR CONGENITAL MUSCULAR DYSTROPHY WITH RUTGERS UNIVERSITY * SANTHERA GAINS RIGHTS TO INTELLECTUAL PROPERTY DEVELOPED AT RUTGERS ON CERTAIN...

Sep 23rd, 2016 - Grants made possible by the “Million Dollar Bike Ride” and rare disease patient organizations are now available through the University of Pennsylvania Orphan Disease Center. September 16 is the deadline for letters of intent.

Sep 23rd, 2016 - Grants made possible by the “Million Dollar Bike Ride” and rare disease patient organizations are now available through the University of Pennsylvania Orphan Disease Center. September 16 is the deadline for letters of intent.

Dec 21st, 2015 - Routine screening of newborns for Duchenne muscular dystrophy (DMD) is under consideration in the United States and elsewhere in the world because of recent developments in diagnostics and treatments. Some of the implications of such screening are...

Dec 21st, 2015 - Routine screening of newborns for Duchenne muscular dystrophy (DMD) is under consideration in the United States and elsewhere in the world because of recent developments in diagnostics and treatments. Some of the implications of such screening are...