Rapid communication: an EcoRI polymorphism at the porcine nebulin (Neb) locus.
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چکیده
منابع مشابه
neb: a zebrafish model of nemaline myopathy due to nebulin mutation
Nemaline myopathy is one of the most common and severe non-dystrophic muscle diseases of childhood. Patients typically present in infancy with hypotonia, weakness, delayed motor development, and bulbar and respiratory difficulties. Mutations in six different genes are associated with nemaline myopathy, with nebulin mutations being the most common. No treatments or disease-modifying therapies ha...
متن کاملFast Skeletal Muscle Troponin Activation Increases Force of Mouse Fast Skeletal Muscle and Ameliorates Weakness Due to Nebulin-Deficiency
The effect of the fast skeletal muscle troponin activator, CK-2066260, on calcium-induced force development was studied in skinned fast skeletal muscle fibers from wildtype (WT) and nebulin deficient (NEB KO) mice. Nebulin is a sarcomeric protein that when absent (NEB KO mouse) or present at low levels (nemaline myopathy (NM) patients with NEB mutations) causes muscle weakness. We studied the e...
متن کاملRapid communication: A PCR-RFLP marker at the porcine complement factor B gene locus shows between-population frequency variation.
1998 American Society of Animal Science. All rights reserved. Figure 1. PCR-RFLP at porcine BF locus. Lane 1: PCR product, 390 bp. Lane 2: 100 bp ladder (New England Biolabs, Beverly, MA). Lanes 3, 4 and 7: homozygotes SmaI+/SmaI+, 237+153 bp. Lanes 5 and 6: heterozygotes SmaI+/SmaI−, 390+237+153 bp. Lanes 8 and 9: homozygotes SmaI−/SmaI−, 390 bp. Rapid Communication: A PCR-RFLP Marker at the ...
متن کاملThin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency.
Nemaline myopathy (NM) is the most common non-dystrophic congenital myopathy. Clinically the most important feature of NM is muscle weakness; however, the mechanisms underlying this weakness are poorly understood. Here, we studied the muscular phenotype of NM patients with a well-defined nebulin mutation (NM-NEB), using a multidisciplinary approach to study thin filament length regulation and m...
متن کاملRapid communication: an XbaI restriction fragment length polymorphism at the Porcine T-complex 1 (TCP1) locus.
Polymorphism. A restriction fragment length polymorphism (RFLP) was detected in the swine TCPl locus using the restriction enzyme XbaI. Source and Description of Clone. A 580-bp human cDNA clone for TCPl was excised from the EcoRI site of plasmid pB1.4 hum (Willison et al., 1987). Method of Detection. DNA was isolated from whole blood, digested with XbaI, separated by agarose gel electrophoresi...
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عنوان ژورنال:
- Journal of animal science
دوره 73 3 شماره
صفحات -
تاریخ انتشار 1995