Muscular Dystrophies at Different Ages: Metabolic and Endocrine Alterations
International Journal of Endocrinology, Volume 2012, Issue 1, 2012., 2012 Common metabolic and endocrine alterations exist across a wide range of muscular dystrophies. Skeletal muscle plays an important role in glucose metabolism and is a major participant in different signaling pathways. Therefore, its damage may lead to different metabolic disruptions. Two of the most important metabolic alterations in muscular dystrophies
Oriana del Rocío Cruz Guzmán +3 more
wiley +1 more source
Segregation of mtDNA Throughout Human Embryofetal Development: m.3243A>G as a Model System [PDF]
, 2010 International audienceMitochondrial DNA (mtDNA) mutations cause a wide range of serious diseases with high transmission risk and maternal inheritance. Tissue heterogeneity of the heteroplasmy rate ("mutant load") accounts for the wide phenotypic spectrum
Monnot, Sophie +14 more
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Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy. [PDF]
, 2015 Background: Hypertrophic cardiomyopathy (HCM) is a common genetic heart disorder characterized by unexplained left ventricle hypertrophy associated with non-dilated ventricular chambers.
BOTTILLO, IRENE +12 more
core +1 more source
Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms [PDF]
, 2017 We have studied a cohort of nemaline myopathy (NM) patients with mutations in the muscle α-skeletal actin gene (ACTA1). Immunoblot analysis of patient muscle demonstrates increased γ-filamin, myotilin, desmin and α-actinin in many NM patients, consistent
Clement, Sophie +8 more
core
Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report [PDF]
, 2003 Background Chondrodystrophic myotonia or Schwartz-Jampel syndrome is a rare genetic disorder characterized by myotonia and skeletal dysplasia. It may be progressive in nature. Recently, the gene responsible for Schwartz-Jampel syndrome has been found and
Nicola C Ho +16 more
core +2 more sources
The clinical spectrum of limb girdle muscular dystrophy. A survey in the Netherlands [PDF]
, 1996 A cross-sectional study was performed in the Netherlands to define the clinical characteristics of the various subtypes within the broad and heterogeneous entity of limb girdle muscular dystrophy (LGMD).
Bakker, E. (Egbert) +18 more
core +1 more source
Sporadic inclusion body myositis: an unsolved mystery [PDF]
, 2009 Sporadic inclusion body myositis (sIBM) is considered to be the most common acquired muscle disease associated with aging. It is a disabling disorder still without effective treatment.
Hanna, M +3 more
core
Role of Autophagy in Glycogen Breakdown and Its Relevance to Chloroquine Myopathy [PDF]
, 2013 Several myopathies are associated with defects in autophagic and lysosomal degradation of glycogen, but it remains unclear how glycogen is targeted to the lysosome and what significance this process has for muscle cells.
Nieuwenhuis, Joppe +2 more
core +3 more sources
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies [PDF]
, 2008 Background: Myofibrillar myopathies (MFM) are a group of phenotypically and genetically heterogeneous neuromuscular disorders, which are characterized by protein aggregations in muscle fibres and can be associated with multisystemic involvement ...
JL De Bleecker +60 more
core +5 more sources
Genetic screen in Drosophila muscle identifies autophagy-mediated T-tubule remodeling and a Rab2 role in autophagy. [PDF]
, 2017 Transverse (T)-tubules make-up a specialized network of tubulated muscle cell membranes involved in excitation-contraction coupling for power of contraction. Little is known about how T-tubules maintain highly organized structures and contacts throughout
Fujita, Naonobu +10 more
core +2 more sources