MeSH Review:
Muscle Hypotonia
- A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Laporte, J., Hu, L.J., Kretz, C., Mandel, J.L., Kioschis, P., Coy, J.F., Klauck, S.M., Poustka, A., Dahl, N. Nat. Genet. (1996)
- Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of mitochondrial electron transport. Fatal infantile lactic acidosis and hypermetabolism with skeletal-cardiac myopathy and encephalopathy. Hoppel, C.L., Kerr, D.S., Dahms, B., Roessmann, U. J. Clin. Invest. (1987)
- The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice. Buj-Bello, A., Laugel, V., Messaddeq, N., Zahreddine, H., Laporte, J., Pellissier, J.F., Mandel, J.L. Proc. Natl. Acad. Sci. U.S.A. (2002)
- Novel subtype of peroxisomal acyl-CoA oxidase deficiency and bifunctional enzyme deficiency with detectable enzyme protein: identification by means of complementation analysis. Suzuki, Y., Shimozawa, N., Yajima, S., Tomatsu, S., Kondo, N., Nakada, Y., Akaboshi, S., Lai, M., Tanabe, Y., Hashimoto, T. Am. J. Hum. Genet. (1994)
- The isochromosome 18p syndrome: confirmation of cytogenetic diagnosis in nine cases by in situ hybridization. Callen, D.F., Freemantle, C.J., Ringenbergs, M.L., Baker, E., Eyre, H.J., Romain, D., Haan, E.A. Am. J. Hum. Genet. (1990)
- High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency). Grünewald, S., Schollen, E., Van Schaftingen, E., Jaeken, J., Matthijs, G. Am. J. Hum. Genet. (2001)
- Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL. Frank, C.G., Grubenmann, C.E., Eyaid, W., Berger, E.G., Aebi, M., Hennet, T. Am. J. Hum. Genet. (2004)
- Efficacy of low-dose dextromethorphan in the treatment of nonketotic hyperglycinemia. Alemzadeh, R., Gammeltoft, K., Matteson, K. Pediatrics (1996)
- Relationships between moderate maternal alcohol consumption during pregnancy and infant neurological development. Staisey, N.L., Fried, P.A. J. Stud. Alcohol (1983)
- Neuroimaging findings of four patients with Sandhoff disease. Yüksel, A., Yalçinkaya, C., Işlak, C., Gündüz, E., Seven, M. Pediatric neurology. (1999)
- A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production. Michele, D.E., Albayya, F.P., Metzger, J.M. J. Clin. Invest. (1999)
- Epidemic of fatal encephalopathy in preschool children in Burkina Faso and consumption of unripe ackee (Blighia sapida) fruit. Meda, H.A., Diallo, B., Buchet, J.P., Lison, D., Barennes, H., Ouangré, A., Sanou, M., Cousens, S., Tall, F., Van de Perre, P. Lancet (1999)
- The del22q11.2 candidate gene Tbx1 regulates branchiomeric myogenesis. Kelly, R.G., Jerome-Majewska, L.A., Papaioannou, V.E. Hum. Mol. Genet. (2004)
- PEX11 beta deficiency is lethal and impairs neuronal migration but does not abrogate peroxisome function. Li, X., Baumgart, E., Morrell, J.C., Jimenez-Sanchez, G., Valle, D., Gould, S.J. Mol. Cell. Biol. (2002)
- Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome. Tsai, T.F., Jiang, Y.H., Bressler, J., Armstrong, D., Beaudet, A.L. Hum. Mol. Genet. (1999)
- Total parenteral nutrition therapy of toxic maple syrup urine disease. Townsend, I., Kerr, D.S. Am. J. Clin. Nutr. (1982)
- Dantrolene. A review of its pharmacodynamic and pharmacokinetic properties and therapeutic use in malignant hyperthermia, the neuroleptic malignant syndrome and an update of its use in muscle spasticity. Ward, A., Chaffman, M.O., Sorkin, E.M. Drugs (1986)
- The use of Pro-Banthine to induce gastrointestinal hypotonia. Merlo, R.B., Stone, M., Baugus, P., Martin, M. Radiology. (1978)
- Enzymologic studies and therapy of Leigh's disease associated with pyruvate decarboxylase deficiency. Toshima, K., Kuroda, Y., Hashimoto, T., Ito, M., Watanabe, T., Miyao, M., Ii, K. Pediatr. Res. (1982)
- Folic acid deficiency and hypotonia. Ozsoylu, S. J. Pediatr. (1980)
- Anticonvulsant actions of DS 103-282. Pharmacological studies in rodents and the baboon, Papio papio. De Sarro, G.B., Croucher, M.J., Meldrum, B.S. Neuropharmacology (1984)
- Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins. Enns, G.M., Steiner, R.D., Buist, N., Cowan, C., Leppig, K.A., McCracken, M.F., Westphal, V., Freeze, H.H., O'brien, J.F., Jaeken, J., Matthijs, G., Behera, S., Hudgins, L. J. Pediatr. (2002)
- The peroxisome and the eye. Folz, S.J., Trobe, J.D. Survey of ophthalmology. (1991)
- Visual evoked potentials in neonatal hyperbilirubinemia. Chen, W.X., Wong, V. J. Child Neurol. (2006)
- Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation. Maj, M.C., MacKay, N., Levandovskiy, V., Addis, J., Baumgartner, E.R., Baumgartner, M.R., Robinson, B.H., Cameron, J.M. J. Clin. Endocrinol. Metab. (2005)
- Increased masticatory muscle stiffness during limb muscle flaccidity associated with succinylcholine administration. Van der Spek, A.F., Fang, W.B., Ashton-Miller, J.A., Stohler, C.S., Carlson, D.S., Schork, M.A. Anesthesiology (1988)
- Acrocallosal syndrome: new findings. Moeschler, J.B., Pober, B.R., Holmes, L.B., Graham, J.M. Am. J. Med. Genet. (1989)
- Wernicke's syndrome after bariatric surgery. Salas-Salvadó, J., García-Lorda, P., Cuatrecasas, G., Bonada, A., Formiguera, X., Del Castillo, D., Hernández, M., Olivé, J.M. Clinical nutrition (Edinburgh, Scotland) (2000)
- Abnormal chloride and potassium conductances in cultured embryonic tongue muscle from trisomy 16 mouse. Peng, S., Rapoport, S.I., Pearce, R.J., Galdzicki, Z. Brain Res. Dev. Brain Res. (2000)
- Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway. Blondeau, F., Laporte, J., Bodin, S., Superti-Furga, G., Payrastre, B., Mandel, J.L. Hum. Mol. Genet. (2000)
- Neuronal migration disorders, genetics, and epileptogenesis. Guerrini, R., Filippi, T. J. Child Neurol. (2005)
- Behavioral abnormalities of Zic1 and Zic2 mutant mice: implications as models for human neurological disorders. Ogura, H., Aruga, J., Mikoshiba, K. Behav. Genet. (2001)
- Disruption of DMD and deletion of ACSL4 causing developmental delay, hypotonia, and multiple congenital anomalies. Bhat, S.S., Schmidt, K.R., Ladd, S., Kim, K.C., Schwartz, C.E., Simensen, R.J., DuPont, B.R., Stevenson, R.E., Srivastava, A.K. Cytogenet. Genome Res. (2006)
- Epilepsy and genetic malformations of the cerebral cortex. Guerrini, R., Carrozzo, R. Am. J. Med. Genet. (2001)
- Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement. den Boer, M.E., Dionisi-Vici, C., Chakrapani, A., van Thuijl, A.O., Wanders, R.J., Wijburg, F.A. J. Pediatr. (2003)