P-38 Preimplantation genetic diagnosis for nemaline myopathy
نویسندگان
چکیده
منابع مشابه
Sarcomere Dysfunction in Nemaline Myopathy
Nemaline myopathy (NM) is among the most common non-dystrophic congenital myopathies (incidence 1:50.000). Hallmark features of NM are skeletal muscle weakness and the presence of nemaline bodies in the muscle fiber. The clinical phenotype of NM patients is quite diverse, ranging from neonatal death to normal lifespan with almost normal motor function. As the respiratory muscles are involved as...
متن کاملFatal nemaline myopathy in infancy.
The clinical and neuropathological findings in two infants with congenital nemaline myopathy are described. One patient presented at birth with severe hypotonia, respiratory failure and contractures and died shortly after the neonatal period. The other presented at age two months with hypotonia and, following a period of clinical stability, died at age seven months from respiratory failure. Pat...
متن کاملPreimplantation Genetic Diagnosis
Inherited genetic diseases have been a problem for some families attempting to conceive a child. If affected parents or carriers of genetic disorders wished to avoid transmitting a condition to their child, they can choose to have prenatal diagnosis of their foetus. Amniocentesis or chorionic villus sampling enables cells from the foetus to be collected and sent for genetic analysis. They could...
متن کاملPreimplantation Genetic Diagnosis (PGD)
Preimplantation genetic diagnosis (PGD) is a reproductive technology used with an in vitro fertilization (IVF) cycle to increase the potential for a successful pregnancy and delivery. The most common applications for PGD include testing for extra or missing chromosomes (aneuploidy screening), familial structural chromosome rearrangements, and diagnosis of genetic disease in couples of increased...
متن کاملPreimplantation genetic diagnosis.
This article covers the rapidly advancing field of preimplantation genetic diagnosis (PGD), the molecular genetic analysis of cells taken from embryos formed through in vitro fertilization (IVF). The article focuses on current practices in patient management, relevant IVF and PGD procedures, molecular methods used in the genetic analysis, and technical difficulties that can affect test results....
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Reproductive BioMedicine Online
سال: 2013
ISSN: 1472-6483
DOI: 10.1016/s1472-6483(13)60101-7