A new case of limb girdle muscular dystrophy 2g in a greek patient, founder effect and review of the literature

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Brusa , R , Magri , F , Papadimitriou , D , Govoni , A , Del Bo , R , Ciscato , P , Savarese , M , Cinnante , C , Walter , M C , Abicht , A , Bulst , S , Corti , S , Moggio , M , Bresolin , N , Nigro , V & Comi , G P 2018 , ' A new case of limb girdle muscular dystrophy 2g in a greek patient, founder effect and review of the literature ' , Neuromuscular Disorders , vol. 28 , no. 6 , pp. 532-537 . https://doi.org/10.1016/j.nmd.2018.04.006

Title: A new case of limb girdle muscular dystrophy 2g in a greek patient, founder effect and review of the literature
Author: 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; Comi, Giacomo Pietro
Contributor: University of Helsinki, Department of Medical and Clinical Genetics
Date: 2018-06
Language: eng
Number of pages: 6
Belongs to series: Neuromuscular Disorders
ISSN: 0960-8966
URI: http://hdl.handle.net/10138/300876
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. (C) 2018 Elsevier B.V. All rights reserved.
Subject: 3111 Biomedicine
1184 Genetics, developmental biology, physiology
Limb Girdle Muscular Dystrophy 2G
Telethonin
TCAP gene
founder effect
DIAGNOSIS
Limb girdle muscular dystrophy 2G
TELETHONIN
Founder effect
SKELETAL-MUSCLE
SARCOMERIC PROTEIN
TCAP
LGMD2G
MUTATIONS
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