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One or more keywords matched the following items that are connected to Dalakas, Marinos
Item TypeName
Concept Mutation
Concept Frameshift Mutation
Concept Point Mutation
Concept Mutation, Missense
Academic Article Missense mutations in desmin associated with familial cardiac and skeletal myopathy.
Academic Article Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.
Academic Article Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins.
Academic Article Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation.
Academic Article Desmin splice variants causing cardiac and skeletal myopathy.
Academic Article Abnormal desmin protein in myofibrillar myopathies caused by desmin gene mutations.
Academic Article Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia.
Academic Article GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM.
Academic Article Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations.
Academic Article Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report.
Academic Article Desmin myopathy.
Academic Article Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations.
Academic Article A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin.
Academic Article Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease.
Academic Article Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy.
Academic Article Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.
Academic Article Exons 16 and 17 of the amyloid precursor protein gene in familial inclusion body myopathy.
Academic Article Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.
Academic Article Ill-defined neurological syndromes with autoimmune background: a diagnostic challenge.
Academic Article Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy.
Academic Article Late-onset muscle weakness in partial phosphofructokinase deficiency: a unique myopathy with vacuoles, abnormal mitochondria, and absence of the common exon 5/intron 5 junction point mutation.
Academic Article Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle.
Academic Article In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.
Academic Article Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease.
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  • Mutation