ALLMedicine™ Congenital Muscular Dystrophy Center

Feb 17th, 2021 - Collagen VI-related myopathies are caused by mutations of COL6A1, COL6A2, and COL6A3 and present with a wide phenotypic spectrum ranging from severe Ulrich congenital muscular dystrophy to mild Bethlem myopathy. Here, we report a consanguineous Ku...

Feb 2nd, 2021 - Anesthesia and Ullrich Congenital Muscular Dystrophy: Comment.|2021|Veyckemans F,|

Dec 31st, 2020 - Collagen VI related myopathies are congenital diseases of variable phenotype. The severe phenotype is referred to as Ullrich congenital muscular dystrophy. In this study, we describe analoguos clinical signs and histopathological alterations in La...

Dec 5th, 2020 - Marked decreases in serum creatine kinase levels have been noted in Duchenne and Becker muscular dystrophies as rare complications of autoimmune or autoinflammatory diseases. The influence of systemic inflammation on serum creatine kinase levels w...

Nov 25th, 2020 - Direct haplotyping enables noninvasive prenatal testing (NIPT) without analyzing proband, which is a promising strategy for pregnancies at risk of an inherited single-gene disorder. Here, we aimed to expand the scope of single-gene disorders that ...

Mar 31st, 2015 - To delineate optimal diagnostic and therapeutic approaches to congenital muscular dystrophy (CMD) through a systematic review and analysis of the currently available literature. Relevant, peer-reviewed research articles were identified using a lit...

Nov 16th, 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...

Nov 14th, 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.

Feb 17th, 2021 - Collagen VI-related myopathies are caused by mutations of COL6A1, COL6A2, and COL6A3 and present with a wide phenotypic spectrum ranging from severe Ulrich congenital muscular dystrophy to mild Bethlem myopathy. Here, we report a consanguineous Ku...

Feb 2nd, 2021 - Anesthesia and Ullrich Congenital Muscular Dystrophy: Comment.|2021|Veyckemans F,|

Dec 31st, 2020 - Collagen VI related myopathies are congenital diseases of variable phenotype. The severe phenotype is referred to as Ullrich congenital muscular dystrophy. In this study, we describe analoguos clinical signs and histopathological alterations in La...

Dec 5th, 2020 - Marked decreases in serum creatine kinase levels have been noted in Duchenne and Becker muscular dystrophies as rare complications of autoimmune or autoinflammatory diseases. The influence of systemic inflammation on serum creatine kinase levels w...

Nov 25th, 2020 - Direct haplotyping enables noninvasive prenatal testing (NIPT) without analyzing proband, which is a promising strategy for pregnancies at risk of an inherited single-gene disorder. Here, we aimed to expand the scope of single-gene disorders that ...

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.

May 6th, 2015 - The American Academy of Neurology (AAN) and American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM) have published guidelines regarding CMD, based on review of the literature. Geographic and ethnic background, clinical features,.

May 5th, 2015 - The American Academy of Neurology (AAN) and American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM) have published guidelines regarding CMD, based on review of the literature. Geographic and ethnic background, clinical features,.

Apr 14th, 2015 - The American Academy of Neurology and the American Association of Neuromuscular & Electrodiagnostic Medicine released an evidence-based guideline of the evaluation, diagnosis, and management of congenital muscular dystrophy (CMD), with the followi.