geoscience.net logo
+ Resolve Article
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter

+ Translate
+ Subscribe to Site Feed
GeoScience Most Shared ContentMost Shared Content

Congenital myotonic dystrophy. Diagnostic difficulties


, : Congenital myotonic dystrophy. Diagnostic difficulties. Pediatrie 47(10): 677-680

Congenital myotonic dystrophy is the neonatal form of Steinert myotonia. It is particularly severe when the mother carries the gene. The diagnosis is made after finding the myotonia in the mother. Prenatal diagnosis can be made by researching the Steinert's disease gene by fetal DNA analysis.

US$29.90

PMID: 1337591


Other references

Rosenkrantz Alfred, 1944: Nye bidrag til forstaaelsen af Ristinge Klints opbygning. New data on the structure of Ristinge Klint, a cliff on Langeland island, Denmark.

Kobayashi T.; Matuo H.; Kobayashi M.; Yamada K.; Minoda Y., 1968: Studies on enz phytase of microorganisms ii culture conditions in solid culture and some enzymatic properties of enz phytase of aspergillus terreus no 9a 1. Journal of Fermentation Technology 46(11): 863-868

Berndt, H.; Kludas, M., 1961: Experiment on the treatment of dysbiosis after gastrectomy. Medizinische Klinik 56: 1875-1878

Marghoob, A.A.; Cowell, L.; Kopf, A.W.; Scope, A., 2009: Observation of chrysalis structures with polarized dermoscopy. Archives of Dermatology 145(5): 618-618

Harris, P., J.; Ferguson, L., R., 1993: Dietary fibre: Its composition and role in protection against colorectal cancer. Dietary fibre has a complex and highly variable composition. Although some dietary fibres may protect against colorectal cancer, it is unlikely that all are equally protective. Dietary fibre is principally composed of plant cell walls, but it also...

Anonymous, 2002: Being a cheerful child results in earlier mortality. NlmCategory="UNASSIGNED">Cheerful children tend to die earlier in adult life than their more morose counterparts, according to researchers in the United States.

Zhou, X.F.; Chen, C.; Rush, R.A., 1994: Characterization of neurotrophin-3 immunoreactive sensory neurons in rat dorsal root ganglia. Society for Neuroscience Abstracts 20(1-2): 1482

Wu, L.Y.; Anderson, M.O.; Toriyabe, Y.; Maung, J.; Campbell, T.Y.; Tajon, C.; Kazak, M.; Moser, J.; Berkman, C.E., 2007: The molecular pruning of a phosphoramidate peptidomimetic inhibitor of prostate-specific membrane antigen. To identify the pharmacophore of a phosphoramidate peptidomimetic inhibitor of prostate-specific membrane antigen (PSMA), a small analog library was designed and screened for inhibitory potency against PSMA. The design of the lead inhibitor was ba...

Gulland, J.M.; Randall, S.S., 1935: The oxytocic hormone of the posterior lobe of the pituitary gland: Further studies of the action of oxidising and reducing agents. Biochemical Journal 29(2): 391-396

Emmrich, P., 1964: Renofacial Dysplasia. Zeitschrift für Urologie 57: 175-178