GNE Myopathy with Prominent Axial Muscle Involvement
نویسندگان
چکیده
منابع مشابه
Autophagy in GNE Myopathy
Muscle diseases represent specific muscle pathology. The characteristic features as hallmarks of diseases have been historically used to diagnose the patients. The “Rimmed vacuole (RV)” (Figures 1) is one of such characteristic features in certain groups of the diseases. This structure consists of the space (vacuole) and purple granules (rim) within myofibers, while the space is sometimes occup...
متن کاملCell stress molecules in the skeletal muscle of GNE myopathy
BACKGROUND Mutations of the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine-kinase (GNE)-gene are causally related to GNE myopathy. Yet, underlying pathomechanisms of muscle fibre damage have remained elusive. In sporadic inclusion body myositis (sIBM), the pro-inflammatory cell-stress mediators αB-crystallin and inducible nitric oxide synthase (iNOS) are crucial markers of the disease ...
متن کاملGNE Myopathy: Two Clusters with History and Several Founder Mutations
GNE myopathy (previous names: HIBM, DMRV, IBM2) is a unique distal myopathy with quadriceps sparing. This recessively inherited myopathy has been diagnosed in various regions of the world with more than 150 disease-causing mutations already identified. Several of those are proven or suspected to be founder mutations in certain regional clusters and are described in this review. The review also ...
متن کاملGNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation
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. Both sisters had slightly higher levels of creatine kinase (CK) and muscle weak...
متن کاملMuscle biopsy with dystrophic pattern and rimmed vacuoles: GNE myopathy in a Brazilian patient.
GNE myopathy (MIM#605820) is a rare autosomal recessive disorder with a higher prevalence in individuals with Middle Eastern or Japanese ancestries1. We present a 23-year-old Brazilian female, without such ancestries, with slowly progressive distal and proximal weakness in her lower limbs since the age of 18. Within five years, weakness progressed to her upper limbs and led to loss of ambulatio...
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ژورنال
عنوان ژورنال: Journal of Clinical Neurology
سال: 2018
ISSN: 1738-6586,2005-5013
DOI: 10.3988/jcn.2018.14.4.580