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Response
25 May 2012
Giulia Ricci, Isabella Scionti, Rossella Tupler, Gabriele Siciliano
The interesting letter by Spadafora and coworkers questions the pathogenic role of the heterozygous CAV3 T78M variant in a patient we have recently described , because they found the same heterozygous...
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CAV3 T78M mutation as polymorphic variant in South Italy
18 May 2012
Patrizia Spadafora, Maria Liguori, Virginia Andreoli, Aldo Quattrone, Antonio Gambardella
We read with interest the manuscript by Ricci et al. about a patient with an overlapping muscular syndrome due to a heterozygous CAV3 T78M mutation and a partial D4Z4 mutation . Although caveolinopath...
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Myalgic phenotype and preserved muscle strength in adult-onset acid maltase deficiency
18 May 2012
Lyell K. Jones, Teerin Liewluck, Ralitza H. Gavrilova
Abstract: Adult-onset acid maltase deficiency is a rare disorder characterized by progressive proximal muscle weakness and early respiratory insufficiency. We present a case of a 53-year-old woman who...
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Mutant HSPB8 causes protein aggregates and a reduced mitochondrial membrane potential in dermal fibroblasts from distal hereditary motor neuropathy patients
17 May 2012
Joy Irobi, Anne Holmgren, Vicky De Winter, Bob Asselbergh, Jan Gettemans, Dirk Adriaensen, Chantal Ceuterick-de Groote, Rudy Van Coster, Peter De Jonghe, Vincent Timmerman
Abstract: Missense mutations in the small heat shock protein HSPB8 cause distal hereditary motor neuropathy (dHMN) and axonal Charcot-Marie-Tooth disease (CMT2L). We previously demonstrated that, desp...
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Single deletions in mitochondrial DNA – Molecular mechanisms and disease phenotypes in clinical practice
11 May 2012
R.D.S. Pitceathly, S. Rahman, M.G. Hanna
Abstract: Over 20years ago single clonal deletions were the first mitochondrial DNA (mtDNA) genetic defects described in association with human disease. Since then very large numbers of children and a...
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