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A Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities Caused By Defective De Novo Phosphatidylcholine Biosynthesis
(Cell Press, 2011)
Congenital muscular dystrophy is a heterogeneous group of inherited muscle diseases characterized clinically by muscle weakness and hypotonia in early infancy. A number of genes harboring causative mutations have been ...
Mutations In Klhl40 Are A Frequent Cause Of Severe Autosomal-Recessive Nemaline Myopathy
(Cell Press, 2013)
Nemaline myopathy (NEM) is a common congenital myopathy. At the very severe end of the NEM clinical spectrum are genetically unresolved cases of autosomal-recessive fetal akinesia sequence. We studied a multinational cohort ...
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 ...