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Your search keyword '"Hajnalka Szabó"' showing total 2 results
Start Over Author "Hajnalka Szabó" Journal journal of child neurology
2 results on '"Hajnalka Szabó"'

1. Nemaline Myopathy Type 2 (NEM2)

Author

Márta Széll, Tibor Hortobágyi, Emese Horváth, Katalin Farkas, Gyurgyinka Gergev, Hajnalka Szabó, Anna Gajda, László Sztriha, and Nikoletta Nagy

Subjects
Male, Pathology, medicine.medical_specialty, Genetic counseling, DNA Mutational Analysis, Muscle Proteins, Myopathies, Nemaline, Compound heterozygosity, Nebulin, Nemaline myopathy, Gene duplication, medicine, Humans, Genetics, Muscle biopsy, medicine.diagnostic_test, biology, Muscles, medicine.disease, Congenital myopathy, Hypotonia, Pedigree, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, biology.protein, Neurology (clinical), medicine.symptom
Abstract

Nemaline myopathy is a type of the heterogeneous group of congenital myopathies. Generalized hypotonia, weakness, and delayed motor development are the main clinical features of the typical congenital form. Histopathology shows characteristic nemaline rods in the muscle biopsy. Mutations in at least 7 genes, including nebulin gene ( NEB), proved to be responsible for this muscle disease. We present a boy with nemaline myopathy type 2 (NEM2) caused by compound heterozygosity for 2 novel mutations, a deletion and a duplication in the NEB gene. The deletion was inherited from the father and the duplication from the mother. Testing all family members supports genetic counseling.

Published
2013

2. X-linked myotubular myopathy: report of a case with novel mutation

Author

Tibor Hortobágyi, Sándor Túri, Hajnalka Szabó, Edit Bereg, László Sztriha, Márta Katona, Istvan Bodi, Krisztián S. Kovács, and Valérie Biancalana

Subjects
Male, Pathology, medicine.medical_specialty, Myotubularin, DNA Mutational Analysis, Muscle Fibers, Skeletal, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Microscopy, Electron, Transmission, 030225 pediatrics, medicine, Humans, Centronuclear myopathy, Arthrogryposis, Muscle biopsy, medicine.diagnostic_test, business.industry, Infant, Newborn, Genetic Diseases, X-Linked, medicine.disease, Protein Tyrosine Phosphatases, Non-Receptor, X-linked myotubular myopathy, Hypotonia, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Mutation, Neurology (clinical), medicine.symptom, Protein Tyrosine Phosphatases, business, 030217 neurology & neurosurgery, Myopathies, Structural, Congenital
Abstract

Myotubular myopathy is a well-defined entity within the centronuclear myopathy subgroup of congenital myopathies. The authors present a patient with the most severe X-linked recessive type (XLMTM). A baby boy presented at birth with severe hypotonia, weak spontaneous movements, arthrogryposis, and respiratory insufficiency. Muscle biopsy showed features of myotubular myopathy. The diagnosis was confirmed and further specified by genetic analysis, revealing a novel frameshift mutation (1314-1315insT) of the myotubularin-coding MTM1 gene. This case underlines the importance of interdisciplinary analysis of congenital muscle diseases, including histomorphological and genetic investigations.

Published
2007

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