X-Linked Dilated Cardiomyopathy: A Cardiospecific Phenotype of Dystrophinopathy
Pharmaceuticals, 2015 X-linked dilated cardiomyopathy (XLDCM) is a distinct phenotype of dystrophinopathy characterized by preferential cardiac involvement without any overt skeletal myopathy.
Akinori Nakamura
doaj +1 more source
Muscle &Nerve, EarlyView.ABSTRACT Introduction/Aims Data on respiratory status and care in older adults with Duchenne muscular dystrophy (DMD) remain limited. This study aimed to characterize respiratory status, respiratory physiotherapy, and associated clinical features in patients with DMD aged ≥ 30 years.
Keisuke Yorimoto +7 more
wiley +1 more source
Genetic analysis of limb girdle muscular dystrophy and Miyoshi myopathy [PDF]
, 2003 The autosomal recessive muscular dystrophies encompass limb girdle muscular dystrophy (LGMD) and Miyoshi myopathy (MM), which can show clinical and genetic overlap.
Summerill, Gillian
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Intellectual and behavioural functioning in boys with Duchenne Muscular Dystrophy : neuropsychological testing and correlation with genotype [PDF]
, 2008 Includes bibliographical references (leaves 76-82).The spectrum of central nervous system manifestations of DMD is less well described than its musculoskeletal aspects. Although international studies have reported intellectual function ranging from above-
Donald, Kirsten Ann Mary
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Sociodemographic and Clinical Profile of Adult Males With Duchenne Muscular Dystrophy
Muscle &Nerve, EarlyView.ABSTRACT Introduction/Aims Due to improvements in clinical care, individuals with Duchenne muscular dystrophy (DMD) are living into adulthood, but little has been published about adults with DMD. We describe key characteristics of adults with DMD using US population‐based surveillance data.
Manju Jayasimha Pula Jayaram +12 more
wiley +1 more source
The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials [PDF]
, 2016 With the emergence of experimental therapies for Duchenne muscular dystrophy (DMD), it is fundamental to understand the natural history of this disorder to properly design clinical trials.
Main, M +8 more
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Angiotensin II type 1 receptor antagonists alleviate muscle pathology in the mouse model for laminin-alpha2-deficient congenital muscular dystrophy (MDC1A) [PDF]
, 2012 BACKGROUND: Laminin-alpha2-deficient congenital muscular dystrophy (MDC1A) is a severe muscle-wasting disease for which no curative treatment is available.
Meinen, Sarina +5 more
core +1 more source
The lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotype
Nature Communications, 2016 Muscular Dystrophy can be caused by mutations in the dystrophingene, causing the severe Duchenne form or the mild Becker form depending on if the transcript is in or out-of-frame.
J. Martone +7 more
doaj +1 more source
Muscle &Nerve, EarlyView.ABSTRACT Introduction/Aims Children and adolescents with neuromuscular diseases often demonstrate muscle weakness and mobility limitations, which may increase perceived exertion during functional tasks. The OMNI scale was developed to assess perceived exertion in pediatric populations; however, its measurement properties in neuromuscular conditions ...
Juliana Cardoso +4 more
wiley +1 more source
Studies on muscular dystrophy associated genes [PDF]
, 2007 Muscular dystrophy is a collective group of genetic disorder that results in progressive wasting of skeletal muscle. Dysferlin, the gene responsible for Limb Girdle Muscular Dystrophy type 2B (LGMD2B) and Miyoshi Myopathy (MM) was found to be a member of
Bakir, Hadil
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