Results 41 to 50 of about 924,459 (214)
Myasthenic congenital myopathy from recessive mutations at a single residue in NaV1.4
Neurology, 2019 Objective To identify the genetic and physiologic basis for recessive myasthenic congenital myopathy in 2 families, suggestive of a channelopathy involving the sodium channel gene, SCN4A.
Nathaniel Elia +9 more
semanticscholar +1 more source
Porcine congenital splayleg is characterised by muscle fibre atrophy associated with relative rise in MAFbx and fall in P311 expression [PDF]
, 2006 <p>Background: Porcine congenital splayleg (PCS) is the most important congenital condition of piglets, associated with lameness and immobility, of unknown aetiology and pathogenesis, hence the need to better understand the condition by defining ...
da Costa, N. +7 more
core +1 more source
SEQUENCE VARIANTS IN THE RYR1 GENE AND GENETIC DISEASES: MALIGNANT HYPERTHERMIA AND CONGENITAL MYOPATHIES [PDF]
, 2009 This PhD thesis has been focused on the identification and functional characterization of sequence variants in the RYR1 gene, associated with Malignant hyperthermia (MH) and some congenital myopathies (CMs).
Perrotta, Giuseppa
core +1 more source
Pediatric Rheumatology Online Journal, 2021 Background Dermatomyositis is an inflammatory muscle disease caused by immune-mediated muscle injury, and central core disease (CCD) is a congenital myopathy associated with disturbed intracellular calcium homeostasis and excitation-contraction coupling.
Min Jung Kim +3 more
doaj +1 more source
BMC Neurology, 2023 Background Neutral lipid storage disease with myopathy (NLSD-M) is an autosomal recessive disease that manifests itself around the 3rd to 4th decade with chronic myopathy predominantly proximal in the shoulder girdle. Clinical myotonia is uncommon.
João Igor Dantas Landim +7 more
doaj +1 more source
Profound Hypotonia and Respiratory Failure due to Suspected Nemaline Myopathy in a Preterm Infant
American Journal of Perinatology Reports, 2021 Congenital myopathies, such as nemaline myopathy, may present with hypotonia and respiratory failure in the neonatal period. Respiratory function can be further compromised in affected infants by the development of chylous effusions.
Gloria Akuamoah-Boateng +4 more
doaj +1 more source
Revista Médica Clínica Las Condes, 2018 : Congenital myopathies are a group of primary hereditary, clinically and genetically heterogeneous skeletal muscle disorders, defined according to histopathologic lesions observed in muscle biopsies.
Edoardo Malfatti, MD, PhD
doaj +1 more source
De novo mutations in FLNC leading to early‐onset restrictive cardiomyopathy and congenital myopathy
Human Mutation, 2018 Mutations in FLNC for a long time are known in connection to neuromuscular disorders and only recently were described in association with various cardiomyopathies.
A. Kiselev +18 more
semanticscholar +1 more source
Gene Expression Profiles of Inflammatory Myopathies
Pediatric Neurology Briefs, 2002 The simultaneous expression of 10,000 genes was measured, using Affymetrix GeneChip microarrays, in muscle specimens from 45 patients with various myopathies (dystrophy, congenital myopathy, and inflammatory myopathy) examined at Brigham and Women’s ...
J Gordon Millichap
doaj +1 more source
Egyptian Journal of Medical Human Genetics, 2021 Background The X-linked myotubular myopathy (XLMTM) is a rare congenital disease. Its main symptoms are hypotonia, dysmorphic facial features, respiratory failure, and feeding disorder. Case presentation This study reports on a male patient from Neonatal
Aleksandra Dudzik +8 more
doaj +1 more source