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Phenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2A from Serbia
Limb-girdle muscular dystrophy (LGMD) type 2A (calpainopathy) is an autosomal recessive disease caused by mutation in the CAPN3 gene. The aim of this study was to examine genetic and phenotypic features of Serbian patients with calpainopathy. The study comprised 19 patients with genetically confirme...
Autores principales: | , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Pacini Editore srl
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6859413/ https://www.ncbi.nlm.nih.gov/pubmed/31788660 |
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author | PERIC, STOJAN STEVANOVIC, JELENA JOHNSON, KATHERINE KOSAC, ANA PERIC, MARINA BRANKOVIC, MARIJA MARJANOVIC, ANA JANKOVIC, MILENA BANKO, BOJAN MILENKOVIC, SANJA DURDIC, MILICA BOZOVIC, IVO GLUMAC, JELENA NIKODINOVIC LAVRNIC, DRAGANA MAKSIMOVIC, RUZICA MILIC-RASIC, VEDRANA RAKOCEVIC-STOJANOVIC, VIDOSAVA |
author_facet | PERIC, STOJAN STEVANOVIC, JELENA JOHNSON, KATHERINE KOSAC, ANA PERIC, MARINA BRANKOVIC, MARIJA MARJANOVIC, ANA JANKOVIC, MILENA BANKO, BOJAN MILENKOVIC, SANJA DURDIC, MILICA BOZOVIC, IVO GLUMAC, JELENA NIKODINOVIC LAVRNIC, DRAGANA MAKSIMOVIC, RUZICA MILIC-RASIC, VEDRANA RAKOCEVIC-STOJANOVIC, VIDOSAVA |
author_sort | PERIC, STOJAN |
collection | PubMed |
description | Limb-girdle muscular dystrophy (LGMD) type 2A (calpainopathy) is an autosomal recessive disease caused by mutation in the CAPN3 gene. The aim of this study was to examine genetic and phenotypic features of Serbian patients with calpainopathy. The study comprised 19 patients with genetically confirmed calpainopathy diagnosed at the Neurology Clinic, Clinical Center of Serbia and the Clinic for Neurology and Psychiatry for Children and Youth in Belgrade, Serbia during a ten-year period. Eighteen patients in this cohort had c.550delA mutation, with nine of them being homozygous. In majority of the patients, disease started in childhood or early adulthood. The disease affected shoulder girdle – upper arm and pelvic girdle – thigh muscles with similar frequency, with muscles of lower extremities being more severely impaired. Facial and bulbar muscles were spared. All patients in this cohort, except two, remained ambulant. None of the patients had cardiomyopathy, while 21% showed mild conduction defects. Respiratory function was mildly impaired in 21% of patients. Standard muscle histopathology showed myopathic and dystrophic pattern. In conclusion, the majority of Serbian LGMD2A patients have the same mutation and similar phenotype. |
format | Online Article Text |
id | pubmed-6859413 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Pacini Editore srl |
record_format | MEDLINE/PubMed |
spelling | pubmed-68594132019-11-29 Phenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2A from Serbia PERIC, STOJAN STEVANOVIC, JELENA JOHNSON, KATHERINE KOSAC, ANA PERIC, MARINA BRANKOVIC, MARIJA MARJANOVIC, ANA JANKOVIC, MILENA BANKO, BOJAN MILENKOVIC, SANJA DURDIC, MILICA BOZOVIC, IVO GLUMAC, JELENA NIKODINOVIC LAVRNIC, DRAGANA MAKSIMOVIC, RUZICA MILIC-RASIC, VEDRANA RAKOCEVIC-STOJANOVIC, VIDOSAVA Acta Myol Original Articles Limb-girdle muscular dystrophy (LGMD) type 2A (calpainopathy) is an autosomal recessive disease caused by mutation in the CAPN3 gene. The aim of this study was to examine genetic and phenotypic features of Serbian patients with calpainopathy. The study comprised 19 patients with genetically confirmed calpainopathy diagnosed at the Neurology Clinic, Clinical Center of Serbia and the Clinic for Neurology and Psychiatry for Children and Youth in Belgrade, Serbia during a ten-year period. Eighteen patients in this cohort had c.550delA mutation, with nine of them being homozygous. In majority of the patients, disease started in childhood or early adulthood. The disease affected shoulder girdle – upper arm and pelvic girdle – thigh muscles with similar frequency, with muscles of lower extremities being more severely impaired. Facial and bulbar muscles were spared. All patients in this cohort, except two, remained ambulant. None of the patients had cardiomyopathy, while 21% showed mild conduction defects. Respiratory function was mildly impaired in 21% of patients. Standard muscle histopathology showed myopathic and dystrophic pattern. In conclusion, the majority of Serbian LGMD2A patients have the same mutation and similar phenotype. Pacini Editore srl 2019-09-01 /pmc/articles/PMC6859413/ /pubmed/31788660 Text en ©2019 Gaetano Conte Academy - Mediterranean Society of Myology, Naples, Italy http://creativecommons.org/licenses/by-nc/4.0/ This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/. |
spellingShingle | Original Articles PERIC, STOJAN STEVANOVIC, JELENA JOHNSON, KATHERINE KOSAC, ANA PERIC, MARINA BRANKOVIC, MARIJA MARJANOVIC, ANA JANKOVIC, MILENA BANKO, BOJAN MILENKOVIC, SANJA DURDIC, MILICA BOZOVIC, IVO GLUMAC, JELENA NIKODINOVIC LAVRNIC, DRAGANA MAKSIMOVIC, RUZICA MILIC-RASIC, VEDRANA RAKOCEVIC-STOJANOVIC, VIDOSAVA Phenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2A from Serbia |
title | Phenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2A from Serbia |
title_full | Phenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2A from Serbia |
title_fullStr | Phenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2A from Serbia |
title_full_unstemmed | Phenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2A from Serbia |
title_short | Phenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2A from Serbia |
title_sort | phenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2a from serbia |
topic | Original Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6859413/ https://www.ncbi.nlm.nih.gov/pubmed/31788660 |
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