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jtitle_s:("Acta mol")
2.  Circulating autoantibodies to troponin I in Emery-Dreifuss muscular dystrophy 
Acta Myologica  2008;27(1):1-6.
The pathogenesis of dilated cardiomyopathy in Emery- Dreifuss muscular dystrophy (EDMD) is still unknown. Autoimmune mechanisms have recently been taken into account. The aim of this investigation was to determine whether the level of circulating antibodies to heart proteins which were previously detected, correlates with disease progression. Troponin I was chosen as the target. Ten patients with EDMD and 10 age-matched normal controls were tested. An enzyme linked immunoassay (ELISA) technique was used to determine the possible relation between the level of anti-troponin I antibodies at diagnosis and at follow-up. Autoantibodies against troponin I were detected in all EDMD patients. At diagnosis the level was higher in the X-linked EDMD form (X-EDMD), as compared to the autosomal dominant form (AD-EDMD). At follow-up the elevated level of the autoantibodies persisted in all the EDMD cases. However, in the AD-EDMD form, the level was found to be significantly rising with disease progression, in the X-EDMD form, on the other hand, it was declining. No clear-cut relationship between the level of the circulating antibodies and cardiac symptomatology was present. Detection of anti-troponin I antibodies may provide a non-invasive marker of early stages of dilated cardiomyopathy in EDMD.
PMCID: PMC2859608  PMID: 19108570
Cardiac autoantibodies; dilated cardiomyopathy; Emery-Dreifuss muscular dystrophy
3.  Looking for disease being a model of human aging 
Acta Myologica  2007;26(2):101-104.
This paper is a part of an introduction to authors’ study on systemic laminopathies and their role in human aging. Of special interest is progeria – a type of systemic laminopathy associated usually with mutation 1824 C > T and presenting phenotype of preliminary aging. The authors analyse the differences between the progeria and other syndrome of preliminary aging – Werner’s syndrome.
PMCID: PMC2949578  PMID: 18421896
Aging; progeria; laminopathies; Werner’s syndrome
4.  Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene 
Acta Myologica  2007;26(2):108-111.
Charcot-Marie-Tooth type 4C4 disease (CMT4C4) is an early onset, autosomal recessive neuropathy with hoarseness caused by mutations in the GDAP1 gene which maps to the 8q13 region. To date, only 24 mutations in the GDAP1 gene have been reported. Neuropathological findings of sural nerve biopsies have been published for a limited number of CMT4C4 patients. Herein, a novel Pro153Leu mutation in the GDAP1 gene identified in a consanguineous Polish family is described and longitudinal clinical and electrophysiological studies as well as morphological findings are presented.
PMCID: PMC2949579  PMID: 18421898
CMT; GDAP1 gene; genotype–phenotype correlations

Results 1-4 (4)