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About 693 results

ALLMedicine™ Congenital Muscular Dystrophy Center

Research & Reviews  264 results

Collagen VI Muscle Disorders: Mutation Types, Pathogenic Mechanisms and Approaches to T...
https://doi.org/10.1007/978-3-030-80614-9_14 10.1016/j.omtn.2020.05.029 10.1006/bbrc.2001.6227 10.1093/hmg/ddi025 10.1002/ana.21213 10.1074/jbc.M209977200 10.1074/jbc.M111.265595 10.1101/cshperspect.a011387 10.1038/nrneurol.2011.81 10.1016/B978-0-08-045031-5.00005-0 10.1002/ana.22087 10.1002/humu.22429 10.1073/pnas.121027598 10.1080/15548627.2016.1231279 10.1242/jcs.169748 10.1007/s00401-018-1860-9 10.1096/fj.13-239533 10.1007/s00401-014-1369-9 10.1080/15548627.2015.1108508 10.1002/j.1460-2075.1989.tb03598.x 10.1086/340608 10.1242/jcs.120220 10.1074/jbc.M710139200 10.1093/hmg/8.10.1893 10.1042/bj2110303 10.1172/JCI83147 10.1074/jbc.M709540200 10.1002/ana.20586 10.1016/j.actbio.2016.12.023 10.1038/nm.2247 10.1074/jbc.RA119.008641 10.1002/ana.1120 10.1038/ng1270 10.1172/JCI23424 10.1007/s00441-015-2345-y 10.1038/s41586-020-2308-7 10.1093/hmg/7.6.981 10.1074/jbc.274.31.21817 10.1074/jbc.M109932200 10.1074/jbc.M510192200 10.1016/j.matbio.2017.12.008 10.1136/jmg.2004.023754 10.1136/jmg.2002.002311 10.1038/nrd4391 10.1016/j.omtn.2017.07.006 10.1002/(SICI)1097-0177(199608)206:4<447::AID-AJA10>3.0.CO;2-U 10.1016/j.ajpath.2019.10.014 10.1155/2011/139194 10.3389/fcell.2020.580933 10.1016/j.cell.2011.10.026 10.1016/j.semcdb.2017.08.053 10.1038/cr.2013.169 10.1002/ana.21439 10.1093/hmg/7.5.807 10.1369/0022155420937098 10.1002/emmm.201202006 10.1016/j.nmd.2007.03.017 10.1038/s41598-020-70730-7 10.1096/fasebj.14.5.761 10.1016/j.lfs.2018.10.056 10.1074/jbc.RA120.014865 10.1038/ncomms4485 10.32098/mltj.04.2013.08 10.1111/j.1476-5381.2009.00316.x 10.1016/B978-0-12-775170-2.50012-3 10.1016/B978-0-12-481280-2.50008-8 10.2147/OTT.S256654 10.1091/mbc.e02-05-0259 10.1074/jbc.M114.632208 10.1093/hmg/ddu254
Advances in Experimental Medicine and Biology; Lamandé SR

Nov 23rd, 2021 - Mutations in the genes encoding the major collagen VI isoform, COL6A1, COL6A2 and COL6A3, are responsible for the muscle disorders Bethlem myopathy and Ullrich congenital muscular dystrophy. These disorders form a disease spectrum from mild to sev...

Muscle magnetic resonance imaging in patients with LAMA2-related muscular dystrophy.
https://doi.org/10.1016/j.nmd.2021.09.006
Neuromuscular Disorders : NMD; Tan D, Ge L et. al.

Oct 28th, 2021 - LAMA2-related muscular dystrophy (LAMA2-MD) is classified into congenital muscular dystrophy type 1A (MDC1A) and autosomal recessive limb-girdle muscular dystrophy-23 (LGMDR23). The purpose of this study was to identify the involvement pattern of ...

B4GAT1 Gene Associated Congenital Muscular Dystrophy Presenting with Recurrent Severe V...
https://doi.org/10.1080/15513815.2021.1982091
Fetal and Pediatric Pathology; Lallar M, Kaur L et. al.

Oct 1st, 2021 - Congenital muscular dystrophies (CMD) range in phenotype from an antenatal presentation with brain and eye anomalies to isolated muscular weakness. B4GAT1 gene has recently been associated with muscular dystrophy-dystroglycanopathy, type A, 13 and...

Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy.
https://doi.org/10.1093/hmg/ddab278
Human Molecular Genetics; Smith SJ, Fabian L et. al.

Sep 28th, 2021 - Congenital muscular dystrophy type 1A (MDC1A), the most common congenital muscular dystrophy in Western countries, is caused by recessive mutations in LAMA2, the gene encoding laminin alpha 2. Currently, no cure or disease modifying therapy has be...

Identification of a compound heterozygous missense mutation in LAMA2 gene from a patien...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8605159
Journal of Clinical Laboratory Analysis; Khorrami A, Goleij P et. al.

Sep 17th, 2021 - Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is occurred by mutations in LAMA2 gene that encodes the laminin α2 chain (merosin). MDC1A is a predominant subtype of congenital muscular dystrophy. Herein, we identified two missense...

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Guidelines  1 results

Consensus statement on standard of care for congenital muscular dystrophies.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5207780
Journal of Child Neurology; Wang CH, Bonnemann CG et. al.

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...

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Clinicaltrials.gov  5 results

Retrospective Natural History Study of Infants and Toddlers With LAMA2-CMD
https://clinicaltrials.gov/ct2/show/NCT04299321

Sep 9th, 2021 - 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...

Clinical Trial Readiness for the Dystroglycanopathies
https://clinicaltrials.gov/ct2/show/NCT00313677

Oct 8th, 2020 - 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...

The Natural History of Patients With Mutations in SEPN1 (SELENON) or LAMA2
https://clinicaltrials.gov/ct2/show/NCT04478981

Aug 28th, 2020 - 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, ...

Low Protein Diet in Patients With Collagen VI Related Myopathies
https://clinicaltrials.gov/ct2/show/NCT01438788

Oct 31st, 2016 - This is a 2 stage exploratory study with a 3-month observational phase on the natural course, followed by a 12-month, open-label, non-comparative, single-arm, phase II pilot study on the efficacy, safety and tolerability of a low-protein diet (LPD...

Cardiac Arrhythmias and Sudden Death in Patients Affected With Laminopathies
https://clinicaltrials.gov/ct2/show/NCT02601066

Apr 6th, 2016 - The LMNA related muscular dystrophies are monogenic progressive neuromuscular disorders. Affected pediatric patients can present at birth or in childhood and are classified as either congenital muscular dystrophy (LMNA-CMD), congenital onset Limb-...

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News  7 results

BRIEF-Santhera Signs Agreements In Gene Therapy Research For Congenital Muscular Dystrophy
https://www.reuters.com/article/brief-santhera-signs-agreements-in-gene/brief-santhera-signs-agreements-in-gene-therapy-research-for-congenital-muscular-dystrophy-idUSASN0006F4

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...

University of Pennsylvania Orphan Disease Center Posts RFPs
https://www.mdedge.com/familymedicine/article/113282/rare-diseases/university-pennsylvania-orphan-disease-center-posts-rfps
Neurology Reviews;

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.

University of Pennsylvania Orphan Disease Center Posts RFPs
https://www.mdedge.com/neurology/article/113282/rare-diseases/university-pennsylvania-orphan-disease-center-posts-rfps

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.

Duchenne Newborn Screening Will Identify Other Conditions
https://www.medscape.com/viewarticle/856277

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...

Duchenne Newborn Screening Will Identify Other Conditions
https://www.staging.medscape.com/viewarticle/856277

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...

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