Results 21 to 30 of about 924,459 (214)
SCN4A-related congenital myopathy in a Han Chinese patient: A case report and literature review [PDF]
HeliyonSCN4A mutations have been shown to be associated with myotonia, paramyotonia congenita, and periodic paralyses. More recently, loss-of-function variants in the SCN4A gene were also noted to be associated with rarer, autosomal recessive forms of ...
Tina Yee-Ching Chan +5 more
doaj +2 more sources
Exercise Training as Part of Musculoskeletal Management for Congenital Myopathy: Where Are We Now?
Pediatric Neurology, 2019 Congenital myopathy is a heterogeneous group of muscle disorders characterized by muscle weakness and hypotonia. This condition is associated with a range of skeletal, respiratory, and ophthalmologic complications and requires a multidisciplinary ...
Alena Adaikina +3 more
semanticscholar +2 more sources
STAC3 gene congenital myopathy and malignant hyperthermia: a crossroads between neurology and anesthesia [PDF]
Arquivos de Neuro-PsiquiatriaSTAC3 gene congenital myopathy and malignant hyperthermia (MH) represent an important crossroads between neurology and anesthesia, where the prompt recognition of the clinical characteristics, and the collaboration between neurologists and ...
Mary Santos Silva +9 more
doaj +2 more sources
Congenital Myopathy with Apoptotic Changes
Pediatric Neurology Briefs, 2000 A case of congenital myopathy with myonuclear changes consistent with apoptotic degeneration in a 4-year-old girl is reported from the National Institute of Neuroscience, Tokyo, Japan.
J Gordon Millichap
doaj +2 more sources
Mitochondrial Myopathy and Congenital Cataract
Pediatric Neurology Briefs, 1993 The autosomal recessive syndrome characterized by mitochondrial myopathy of cardiac and skeletal muscle, congenital cataract and lactic acidosis is described in two forms following a retrospective study of 16 patients at the University of Nijmegen, The ...
J Gordon Millichap
doaj +2 more sources
Bi‐allelic mutations in MYL1 cause a severe congenital myopathy [PDF]
Human Molecular Genetics, 2018 &NA; Congenital myopathies are typically characterised by early onset hypotonia, weakness and hallmark features on biopsy. Despite the rapid pace of gene discovery, ˜50% of patients with a congenital myopathy remain without a genetic diagnosis following ...
G. Ravenscroft +19 more
semanticscholar +4 more sources
Congenital X-Linked Autophagic Vacuolar Myopathy
Pediatric Neurology Briefs, 2005 A Chinese-American family with a severe X-linked congenital autophagic vacuolar myopathy (AVM) affecting 7 boys is reported from the National Center of Neurology and Psychiatry, Kodaira, Tokyo, and Utano National Hospital, Kyoto, Japan; and Shandong ...
J Gordon Millichap
doaj +2 more sources
Congenital myopathy caused by a novel missense mutation in the CFL2 gene
Neuromuscular Disorders, 2012 Nemaline myopathy and myofibrillar myopathy are heterogeneous myopathies that both comprise early-onset forms. We present two sisters from a consanguineous Iraqi Kurdish family with predominant axial and limb girdle weakness.
Alan H. Beggs +2 more
exaly +2 more sources
Corrigendum: A Systematic Review and Meta-Analysis of the Prevalence of Congenital Myopathy [PDF]
Frontiers in Neurology, 2022 Kun Huang +3 more
doaj +2 more sources
Journal of Obstetric Anaesthesia and Critical Care, 2022 We present the anaesthetic management of a parturient with myogenic differentiation-1 gene-related congenital myopathy who presented for urgent caesarean section due to pre-eclampsia and respiratory failure.
Hafiza B Misran +3 more
doaj +1 more source