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Start Over Author "Bulst, Stefanie" Publisher elsevier bv
5 results on '"Bulst, Stefanie"'

1. A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature

Author

Brusa, Roberta, primary, Magri, Francesca, additional, Papadimitriou, Dimitra, additional, Govoni, Alessandra, additional, Del Bo, Roberto, additional, Ciscato, Patrizia, additional, Savarese, Marco, additional, Cinnante, Claudia, additional, Walter, Maggie C., additional, Abicht, Angela, additional, Bulst, Stefanie, additional, Corti, Stefania, additional, Moggio, Maurizio, additional, Bresolin, Nereo, additional, Nigro, Vincenzo, additional, and Comi, Giacomo Pietro, additional

Published
2018
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5. A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature

Author

Patrizia Ciscato, Roberto Del Bo, Roberta Brusa, Angela Abicht, Francesca Magri, Stefania Corti, Vincenzo Nigro, Marco Savarese, Nereo Bresolin, Alessandra Govoni, Dimitra Papadimitriou, Giacomo P. Comi, Maurizio Moggio, Claudia Cinnante, Maggie C. Walter, Stefanie Bulst, Brusa, Roberta, Magri, Francesca, Papadimitriou, Dimitra, Govoni, Alessandra, Del Bo, Roberto, Ciscato, Patrizia, Savarese, Marco, Cinnante, Claudia, Walter, Maggie C., Abicht, Angela, Bulst, Stefanie, Corti, Stefania, Moggio, Maurizio, Bresolin, Nereo, Nigro, Vincenzo, and Comi, Giacomo Pietro

Subjects
Adult, 0301 basic medicine, Pathology, medicine.medical_specialty, Telethonin, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Limb girdle muscular dystrophy 2G, medicine, Humans, Connectin, Muscle, Skeletal, Genetics (clinical), Mutation, Muscle biopsy, Greece, medicine.diagnostic_test, Haplotype, Skeletal muscle, TCAP gene, medicine.disease, Founder Effect, 3. Good health, 030104 developmental biology, medicine.anatomical_structure, Muscular Dystrophies, Limb-Girdle, Neurology, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), 030217 neurology & neurosurgery, Limb-girdle muscular dystrophy, Founder effect
Abstract

Limb girdle muscular dystrophy (LGMD) type 2G is a rare form of muscle disease, described only in a few patients worldwide, caused by mutations in TCAP gene, encoding the protein telethonin. It is characterised by proximal limb muscle weakness associated with distal involvement of lower limbs, starting in the first or second decade of life. We describe the case of a 37-year-old woman of Greek origin, affected by disto-proximal lower limb weakness. No cardiac or respiratory involvement was detected. Muscle biopsy showed myopathic changes with type I fibre hypotrophy, cytoplasmic vacuoles, lipid overload, multiple central nuclei and fibre splittings; ultrastructural examination showed metabolic abnormalities. Next generation sequencing analysis detected a homozygous frameshift mutation in the TCAP gene (c.90_91del), previously described in one Turkish family. Immunostaining and Western blot analysis showed complete absence of telethonin. Interestingly, Single Nucleotide Polymorphism analysis of the 10 Mb genomic region containing the TCAP gene showed a shared homozygous haplotype of both the Greek and the Turkish patients, thus suggesting a possible founder effect of TCAP gene c.90_91del mutation in this part of the Mediterranean area.

Published
2018
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