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
core +3 more sources
Journal of Rare DiseasesPurpose Distal myopathies are rare neuromuscular disorders, among which GNE myopathay (also known as Nonaka myopathy) results from autosomal recessive mutations in the GNE [glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase] gene, while ...
Tamali Halder +2 more
doaj +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
Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy [PDF]
, 2013 BACKGROUND: We report an Italian family in which the proband showed a severe phenotype characterized by the association of congenital fiber type disproportion (CFTD) with a left ventricular non-compaction cardiomyopathy (LVNC).
Antonio Varone +10 more
core +1 more source
Rhabdomyolysis: a genetic perspective [PDF]
, 2015 Rhabdomyolysis (RM) is a clinical emergency characterized by fulminant skeletal muscle damage and release of intracellular muscle components into the blood stream leading to myoglobinuria and, in severe cases, acute renal failure.
Alice R Gardiner +8 more
core +4 more sources
Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2 gene [PDF]
, 2018 A boy presented at age 2.5 years with mild left ventricular hypertrophy and mild myopathy. Hypertrophic cardiomyopathy progressed relentlessly, leading to death at age 16 years shortly before planned heart transplantation.
Ballhausen, Diana +6 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
Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients [PDF]
, 2013 The congenital myopathies include a wide spectrum of clinically, histologically and genetically variable neuromuscular disorders many of which are caused by mutations in genes for sarcomeric proteins.
El-Mezgueldi, M +9 more
core +1 more source
Year in review 2010: Critical Care- neurocritical care [PDF]
, 2011 In 2010 Critical Care published a large number of articles on critical care aspects of neurologic and neurosurgical conditions. These aspects included investigation of diagnostic criteria for bacterial meningitis, critical illness myopathy and their ...
Diringer, Michael N, Scalfani, Michael T
core +2 more sources