Phenotypic variability in a Chinese family with rimmed vacuolar distal myopathy

Ro, L-S; Lee-Chen, G-J.; Wu, Y-R.; Lee, M.; Hsu, P-Y.; Chen, C-M.
May 2005
Journal of Neurology, Neurosurgery & Psychiatry;May2005, Vol. 76 Issue 5, p752
Academic Journal
journal article
Background: UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene mutations have been found in patients with distal myopathy with rimmed vacuoles (DMRV). It is not clear how the same GNE gene mutations can result in different phenotypes in the same family with DMRV.Methods: The clinical, neurophysiological, histopathological, and genetic characteristics of two patients with DMRV from a Chinese family from Taiwan were investigated.Results: Two novel compound heterozygous mutations in different domains of the protein, Ile241Ser in the epimerase and Trp513stop in the kinase domain, were detected in both patients. However, the two patients demonstrated different patterns of disease progression: one had slow disease progression with a typical feature of DMRV (that is, weakness beginning in the distal leg muscles, typically anterior tibialis, with the quadriceps remaining relatively unaffected), and the other had rapid disease progression with an atypical presentation of DMRV.Conclusions: The results of the present study indicate that GNE gene mutations and probably modifier gene(s) or additional factors may result in different phenotypes of DMRV.


Related Articles

  • Mitochondrial Myopathy, Sideroblastic Anemia, and Lactic Acidosis: An Autosomal Recessive Syndrome in Persian Jews Caused by a Mutation in the PUS1 Gene. Zeharia, Avraham; Fischel-Ghodsian, Nathan; Casas, Kari; Bykhovskaya, Yelena; Tamari, Hana; Lev, Dorit; Mimouni, Marc; Lerman-Sagie, Tally // Journal of Child Neurology;May2005, Vol. 20 Issue 5, p449 

    We report the seventh case of autosomal recessive inherited mitochondrial myopathy, lactic acidosis, and sideroblastic anemia. The patient, a product of consanguineous Persian Jews, had the association of mental retardation, dysmorphic features, lactic acidosis, myopathy, and sideroblastic...

  • ACUTE PARASPINAL COMPARTMENT SYNDROME. Khan, Riaz J. K.; Fick, Daniel P.; Guier, Chris A.; Menolascino, Mike J.; Neal, Mary C. // Journal of Bone & Joint Surgery, American Volume;May2005, Vol. 87-A Issue 5, p1126 

    Describes a rare case of acute compartment syndrome in the paraspinal muscles treated with surgical decompression. Symptoms of the syndrome; Indication of surgical intervention after the confirmation of the diagnosis of the disease; Assertion on the need for awareness of the existence of the...

  • Muscle stem cells can act as antigen-presenting cells: implication for gene therapy. Cao, B.; Bruder, J.; Kovesdi, I.; Huard, J. // Gene Therapy;Sep2004, Vol. 11 Issue 17, p1321 

    Research has shown that the use of a muscle-specific promoter can reduce immune response and improve gene transfer to muscle fibers. We investigated the efficiency of direct and ex vivo gene transfer to the skeletal muscles of 6- to 8-week-old mdx mice by using two adenoviral vectors: adenovirus...

  • Congenital myopathies: Clinical and immunohistochemical study. Thaha, Fazil; Gayathri, N.; Nalini, A. // Neurology India;Nov2011, Vol. 59 Issue 6, p879 

    Congenital myopathies (CMs), a group of relatively non-progressive disorders presents with weakness and hypotonia of varying severity, morphologically recognized by specific structural abnormalities within the myofiber. This report presents the clinical and Histopathological features of 40...

  • Volkmann's ischaemic contracture.  // British Medical Journal;2/16/1980, Vol. 280 Issue 6212, p430 

    Examines the incidence of Volkmann's ischemic contracture. Description of Volkmann's ischemic contracture; Effect of Volkmann's contracture on osteofascial compartments; Complications of contracture.

  • Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Toydemir, Reha M.; Rutherford, Ann; Whitby, Frank G.; Jorde, Lynn B.; Carey, John C.; Bamshad, Michael J. // Nature Genetics;May2006, Vol. 38 Issue 5, p561 

    The genetic basis of most conditions characterized by congenital contractures is largely unknown. Here we show that mutations in the embryonic myosin heavy chain (MYH3) gene cause Freeman-Sheldon syndrome (FSS), one of the most severe multiple congenital contracture (that is, arthrogryposis)...

  • Comment on 'Risk factors for acute compartment syndrome of the leg associated with tibial diaphyseal fractures in adults' by Shagdan B et al. Hake, Mark; Mauffrey, Cyril // Journal of Orthopaedics & Traumatology;Sep2015, Vol. 16 Issue 3, p193 

    In this article, the author focuses on a research on risks associated with acute compartment syndrome (ACS). Topics discussed include physical examination of patients for diagnosis of development of ACS, higher risks of ACS and possibility of compartment syndrome in patients with tibial shaft...

  • Under Pressure. Cimons, Marlene // Runner's World;Jan2002, Vol. 37 Issue 1, p34 

    Offers information on compartment syndrome, a condition in which pressure increases within a muscle compartment of the lower leg.

  • Compartment syndrome. Wilde, Sarah // British Journal of Perioperative Nursing;Dec2004, Vol. 14 Issue 12, p546 

    Compartment syndrome affecting the limbs is a well-documented condition and there are cases where it has become evident following surgery undertaken with the patient in the Lloyd Davies position. This article explores the contributory factors and the devastating effect it can have on the...


Read the Article


Sign out of this library

Other Topics