نتایج جستجو برای: congenital myopathy
تعداد نتایج: 131548 فیلتر نتایج به سال:
A M Kaindl, F Rüschendorf, S Krause, H-H Goebel, K Koehler, C Becker, D Pongratz, J MüllerHöcker, P Nürnberg, G Stoltenburg-Didinger, H Lochmüller, A Huebner . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ....
BACKGROUND Mitochondrial DNA depletion syndrome is an autosomal recessive disorder characterized by decreased mitochondrial DNA copy numbers in affected tissues. It has been linked to 4 genes involved in deoxyribonucleotide triphosphate metabolism: thymidine kinase 2 (TK2), deoxyguanosine kinase (DGUOK), polymerase gamma (POLG), and SUCLA2, the gene encoding the beta-subunit of the adenosine di...
Nemaline myopathy is a structural congenital myopathy which may show both autosomal dominant and autosomal recessive inheritance patterns. Mutations in three different genes have been identi®ed as the cause of nemaline myopathy: the gene for slow a-tropomyosin 3 (TPM3) at 1q22±23, the nebulin gene (NEB) at 2q21.1±q22, and the actin gene (ACTA1) at 1q42. The typical autosomal recessive form appe...
Hellstrdm, B. (1949). Congenital facial diplegia. Acta paediat. (Uppsala), 37, 464-473. Henderson, J. L. (1939). The congenital facial diplegia syndrome. Clinical features, pathology and aetiology. Brain, 62, 381-403. Heubner, 0. (1900). Ueber angeborenen Kemmangel (infantiler Kemschwund, Moebius). Chariti-Ann., 25, 211-243. Hurwitz, L. J., Carson, N. A. J., and Allen, I. (1968). Congenital oph...
BACKGROUND Seven male Labrador Retriever puppies from 3 different litters, born to clinically normal dams and sires, were evaluated for progressive weakness and muscle atrophy. Muscle biopsies identified a congenital myopathy with pathologic features consistent with myotubular myopathy. Further investigations identified a pathogenic mutation in the myotubularin gene, confirming that these puppi...
IMPORTANCE Newer sequencing technologies in combination with traditional gene mapping techniques, such as linkage analysis, can help identify the genetic basis of disease for patients with rare disorders of uncertain etiology. This approach may expand the phenotypic spectrum of disease associated with those genetic mutations. OBJECTIVE To elucidate the molecular cause of a neuromuscular disea...
how to cite this article: bozorgmehr b, kariminejad a, nafissi sh, jebelli b, andoni u, gartioux c, ledeuil c, allamand y, richard p, kariminejad mh. ullrich congenital muscular dystrophy (ucmd):clinical and genetic correlations. iran j child neurol. 2013 summer; 7(3): 15-22. obj ective: ullrich congenital muscular dystrophy (ucmd) corresponds to the severe end of the clinical spectrum of neu...
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