Results 31 to 40 of about 43,935 (132)
GNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation
Case Reports in Neurological Medicine, Volume 2016, Issue 1, 2016., 2016 Background. Hereditary inclusion body myopathy is caused by biallelic defects in the GNE gene located on chromosome 9p13. It generally affects adults older than 20 years of age. Methods and Results. In this study, we present two Turkish sisters with progressive myopathy and describe a novel mutation in the GNE gene.
Gulden Diniz +8 more
wiley +1 more source
Single visits to active wolf dens do not impact wolf pup recruitment or pack size
Wildlife Biology, Volume 2024, Issue 6, November 2024.Evaluating methods used to capture and mark neonates is necessary for ensuring research methods are ethical, follow best practices, and do not have long‐term unintended impacts on neonates or populations. We used a quasi‐experimental approach (reference versus treatment) to determine whether visiting wolf dens and marking wolf Canis lupus pups affects ...
Thomas D. Gable +3 more
wiley +1 more source
Nonaka myopathy: First report of a rare mutation c.1702T>Cfrom India
IP Indian Journal of NeurosciencesNonaka myopathy is an autosomal recessive muscle disease which is slowly progressive. It typically presents between age 20 and 40 years with bilateral foot drop caused by tibialis anterior muscle weakness. Subsequently involvement of the posterior compartment of the leg, followed by involvement of hamstrings, then hip girdle muscles occur, with ...
Somarajan Anandan +4 more
openaire +1 more source
Slowly progressive distal muscle weakness: neuropathy or myopathy?
, 2019 Nonaka myopathy is an autosomal recessive and slowly progressive distal myopathy. It is part of a rare group of myopathies predominantly affecting the distal limb musculature. Over 150 cases have been reported across the Middle East, Japan and Europe. We
Curtis, Elizabeth +4 more
core +1 more source
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
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
Genetic analysis of limb girdle muscular dystrophy and Miyoshi myopathy [PDF]
, 2003 The autosomal recessive muscular dystrophies encompass limb girdle muscular dystrophy (LGMD) and Miyoshi myopathy (MM), which can show clinical and genetic overlap.
Summerill, Gillian
core
Necrotising autoimmune myopathy
, 2017 Necrotising Autoimmune Myopathy is a subacute proximal myopathy with high creatine kinase levels and biopsy findings of necrotic and regenerating fibres with minimal inflammation.
Catherine Ashton, Merrilee Needham
core +1 more source
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
Neuroacanthocytosis Syndromes [PDF]
, 2011 Neuroacanthocytosis (NA) syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia.
Danek, Adrian +11 more
core +1 more source