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Toplam kayıt 4, listelenen: 1-4
Mutation In Tor1Aip1 Encoding Lap1B In A Form Of Muscular Dystrophy: A Novel Gene Related To Nuclear Envelopathies
(Pergamon-Elsevier Science Ltd, 2014)
We performed genome-wide homozygosity mapping and mapped a novel myopathic phenotype to chromosomal region 1q25 in a consanguineous family with three affected individuals manifesting proximal and distal weakness and atrophy, ...
The Myopathic Form Of Coenzyme Q10 Deficiency Is Caused By Mutations In The Electron-Transferring-Flavoprotein Dehydrogenase (Etfdh) Gene
(Oxford Univ Press, 2007)
Coenzyme Q10 (CoQ10) deficiency is an autosomal recessive disorder with heterogenous phenotypic manifestations and genetic background. We describe seven patients from five independent families with an isolated myopathic ...
Refining Genotype - Phenotype Correlations in Muscular Dystrophies with Defective Glycosylation of Dystroglycan
(Oxford Univ Press, 2007)
Muscular dystrophies with reduced glycosylation of alpha-dystroglycan (alpha-DG), commonly referred to as dystroglycanopathies, are a heterogeneous group of autosomal recessive conditions which include a wide spectrum of ...
A Comparative Study of Alpha-Dystroglycan Glycosylation in Dystroglycanopathies Suggests That The Hypoglycosylation of Alpha-Dystroglycan Does Not Consistently Correlate with Clinical Severity
(Wiley, 2009)
Hypoglycosylation of alpha-dystroglycan underpins a subgroup of muscular dystrophies ranging from congenital onset of weakness, severe brain malformations and death in the perinatal period to mild weakness in adulthood ...