Congenital Myopathy With Nemaline Rods and Cap Structures Caused by a Mutation in the β-Tropomyosin Gene (TPM2) [PDF]
Archives of Neurology, 2007 To describe the clinical, morphologic, and genetic findings in a family in which one woman had nemaline myopathy, whereas her daughter showed features of cap disease.A 66-year-old woman and her 35-year-old daughter had congenital, slowly progressive muscle weakness.
Homa, Tajsharghi +3 more
openaire +2 more sources
Histochemical Analysis of Paraspinal Rotator Muscles From Patients With Adolescent Idiopathic Scoliosis A Cross-Sectional Study [PDF]
, 2015 Morphological, biochemical, and histopathological alterations in the paraspinal skeletal muscle of patients with adolescent idiopathic scoliosis (AIS) have been extensively reported.
Del Curto, David +7 more
core +2 more sources
PLoS ONE, 2011 Mutations in the skeletal muscle α-actin gene (ACTA1) cause congenital myopathies including nemaline myopathy, actin aggregate myopathy and rod-core disease.
Gianina Ravenscroft +11 more
doaj +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
Exertional rhabdomyolysis and heat stroke : beware of volatile anesthetic sedation [PDF]
, 2017 In view of the enormous popularity of mass sporting events such as half-marathons, the number of patients with exertional rhabdomyolysis or exercise-induced heat stroke admitted to intensive care units (ICUs) has increased over the last decade.
Baets, Jonathan +4 more
core +2 more sources
Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization. [PDF]
, 2011 International audienceAIMS: To report the clinical, pathological and genetic findings in a group of patients with a previously not described phenotype of congenital myopathy due to recessive mutations in the gene encoding the type 1 muscle ryanodine ...
Bevilacqua, J. A. +14 more
core +4 more sources
, 2007 Multi-minicore Disease (MmD) is a recessively inherited neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy. Prevalence is unknown.
Heinz Jungbluth +81 more
core +1 more source
Bi-allelic mutations in MYL1 cause a severe congenital myopathy. [PDF]
, 2018 OBJECTIVE: Congenital myopathies are typically characterised by early onset hypotonia, weakness and hallmark features on biopsy. Despite the rapid pace of gene discovery, approximately 50% of patients with a congenital myopathy remain without a genetic ...
Borsari, M +19 more
core +1 more source
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
RyR1-targeted drug discovery pipeline integrating FRET-based high-throughput screening and human myofiber dynamic Ca2+ assays. [PDF]
, 2020 Elevated cytoplasmic [Ca2+] is characteristic in severe skeletal and cardiac myopathies, diabetes, and neurodegeneration, and partly results from increased Ca2+ leak from sarcoplasmic reticulum stores via dysregulated ryanodine receptor (RyR) channels ...
Bers, Donald M +6 more
core +2 more sources