Results 101 to 110 of about 35,591 (238)
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development [PDF]
, 2017 Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects.
A Javed +97 more
core +3 more sources
Malignant Hyperthermia in Sweden: Clinical Presentations and Genetic Findings
Acta Anaesthesiologica Scandinavica, Volume 70, Issue 6, July 2026.ABSTRACT Introduction Malignant hyperthermia (MH) is a pharmacogenetic, hypermetabolic and potentially lethal reaction to potent volatile anaesthetics and the muscle relaxant succinylcholine. To improve the understanding of MH, the aim of this retrospective study was to describe the Swedish cohort with respect to clinical manifestations, demographics ...
Anna Hellblom +2 more
wiley +1 more source
Congenital muscular dystrophy with inflammation: Diagnostic considerations
Annals of Indian Academy of Neurology, 2016 Background and Purpose: Muscle biopsy features of congenital muscular dystrophies (CMD) vary from usual dystrophic picture to normal or nonspecific myopathic picture or prominent fibrosis or striking inflammatory infiltrate, which may lead to diagnostic ...
Kaumudi Konkay +4 more
doaj +1 more source
Early stages of building a rare disease registry, methods and 2010 data from the Belgian Neuromuscular Disease Registry (BNMDR) [PDF]
, 2015 The Belgian Neuromuscular Disease Registry, commissioned in 2008, aims to collect data to improve knowledge on neuromuscular diseases and enhance quality health services for neuromuscular disease patients.
BNMDR Scientific Committee, the +7 more
core +2 more sources
Congenital Muscular Dystrophies and Cognitive Impairment
Pediatric Neurology Briefs, 2010 Reserchers at the Department of Paediatric Neurology, Catholic University, Rome and other Italian centers specializing in neuromuscular disease studied the prevalence of congenital muscular dystrophy (CMD) in the Italian population, and the frequency of ...
J Gordon Millichap
doaj +1 more source
Motor function evaluation in merosin-deficient congenital muscular dystrophy children [PDF]
, 2005 Congenital muscular dystrophy (CMD) is a heterogeneous group of disorders characterized by early onset of hypotonia and weakness. Almost 50% of the cases are caused by primary deficiency of a protein named merosin (MD), and present a homogenous phenotype
Beteta, Javier Toledano +6 more
core +3 more sources
Psychiatry and Clinical Neurosciences Reports, Volume 5, Issue 2, June 2026.Abstract Background Mutations in DMD affect not only muscles but also the brain. Cases of schizophrenia with DMD mutations have been described previously. Although female dystrophinopathy often has a milder phenotype, some affected females also have intellectual disabilities and psychiatric disorders.
Shusei Arafuka +15 more
wiley +1 more source
Distrofia muscular progressiva: alguns aspectos do diagnõstico diferencial
Arquivos de Neuro-Psiquiatria, 1960 The authors call attention to some clinical entities which are less known and more difficult to recognize and with which differential diagnosis of progressive muscular dystrophy should be made (infantile spinal muscular atrophy, amyotonia congenita ...
Sylvio Saraiva +2 more
doaj +1 more source
Atypical Phenotype in Two Patients with LAMA2 Mutations [PDF]
, 2014 Congenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene, which encodes the a2-chain of laminin. We report two patients with partial laminin-a2 deficiency and atypical phenotypes, one with almost exclusive central nervous system ...
Bronze-da-Rocha, E +10 more
core +1 more source