Peric, Stojan Stevanovic, Jelena Johnson, Katherine Kosac, Ana Peric, Marina Brankovic, Marija Marjanovic, Ana Jankovic, Milena Banko, Bojan Milenkovic, Sanja
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Published in
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
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,...
Machado, Rita Pinto-Basto, Jorge Negrão, Luís
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Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
CMT disease caused by NEFL gene mutations is rare. The mode of inheritance can be dominant or recessive and nerve conduction velocities can be normal, reduced (demyelinating) or presenting intermediate values. Two Portuguese adult related members in two successive generations were affected by peripheral neuropathy, one with a chronic ataxic periphe...
Angelini, Corrado Marozzo, Roberta Pegoraro, Valentina
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Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
Becker muscular dystrophy (BMD) has onset usually in childhood, frequently by 11 years. BMD can present in several ways such as waddling gait, exercise related cramps with or without myoglobinuria. Rarely cardiomyopathy might be the presenting feature. The evolution is variable. BMD is caused by dystrophin deficiency due to inframe deletions, mutat...
Alfarih, Mashael Syrris, Petros Arbustini, Eloisa Augusto, João B Hughes, Alun Lloyd, Guy Lopes, Luis R Moon, James C Mohiddin, Saidi Captur, Gabriella
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Published in
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
In a five-generation family carrying a novel frameshift LMNA variant (c.1434dupG, p.Leu479AlafsX72), imaging-augmented segregation analysis supports its association with lamin heart disease. Affected members exhibit conduction abnormalities, supraventricular and ventricular arrythmias, dilated cardiomyopathy with non-infarct pattern midwall septal ...
Kazakov, Valery M Rudenko, Dmitry I Stuchevskaya, Tima R Posokhina, Oxana V Skoromets, Alexander A Perfilyev, Semen V
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Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
We examined a patient aged 31 who had a sudden burning paraesthesia, pain and numbness in the lower legs together with an increased temperature of 39°C. Clinical examination showed asymmetrical sensory polyneuropathy more clearly seen in the lower legs and the left wrist, with high ESR (up to 44 mm/h), leukocytosis, slight anemia and proteinuria. C...
Fan, Chunxiang Kuhn, Marius Mbiol, Alexander Pepler Groome, James Winston, Vern Biskup, Saskia Lehmann-Horn, Frank Jurkat-Rott, Karin
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Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
Periodic paralyses (PP) are recurrent episodes of flaccid limb muscle weakness. Next to autosomal dominant forms, sporadic PP (SPP) cases are known but their genetics are unclear. In a patient with hypokalemic SPP, we performed exome sequencing to identify a candidate gene. We sequenced this gene in 263 unrelated PP patients without any known causa...
Bohlega, Saeed A Alfawaz, Sarah Abou-Al-Shaar, Hussam Al-Hindi, Hindi N Murad, Hatem N Bohlega, Mohamed S Meyer, Brian F Monies, Dorota
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Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
Autosomal dominant LGMD1D has been described in multiple families in Asia, Europe, and USA. However, to the best of our knowledge, no cases of LGMD1D have been reported among native Bedouin Saudi families. Fifty Saudi families with LGMD were analyzed and the causative underlying genes were studied utilizing genome wide linkage, homozygosity mapping...
Gallinoro, Emanuele Papa, Andrea Antonio Rago, Anna Sperlongano, Simona Cassese, Antonio Cioppa, Nadia Della Magliocca, Maria Cristina Giada Cimmino, Giovanni Golino, Paolo
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Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
Myotonic dystrophy type 1 (DM1) is the most common form of adult muscular dystrophy. It is an autosomal dominant inherited disease with multisystemic involvement. Respiratory function is often affected and respiratory failure is the most common cause of death. Pulmonary embolism is a rare cause of respiratory failure in DM1 patients, so that the be...
Yiş, Uluç Diniz, Gülden Hazan, Filiz Daimagüler, Hülya Sevcan Baysal, Bahar Toklu Baydan, Figen Akinci, Gülçin Ünalp, Aycan Aktan, Gül Bayram, Erhan
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Published in
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
The aim of this study is to analyze the epidemiology of the clinical and genetic features of childhood-onset limb-girdle muscular dystrophies (LGMD) in the Aegean part of Turkey. In total fifty-six pediatric cases with LGMD followed in four different pediatric neurology departments in the Aegean region of Turkey were evaluated. Among them, LGMD2C w...
Francini-Pesenti, Francesco Querin, Giorgia Martini, Cristina Mareso, Sara Sacerdoti, David
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Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
Spinal-bulbar muscular atrophy (SBMA), is an X-linked motor neuron disease caused by a CAG-repeat expansion in the first exon of the androgen receptor gene (AR) on chromosome X. In SBMA, non-neural clinical phenotype includes disorders of glucose and lipid metabolism. We investigated the prevalence of metabolic syndrome (MS), insulin resistance (IR...
