M. Desikan, L. Nastasi, S. Price, R. Scalco, J. Pattni, M. Hanna, R. Quinlivan September 14, 2017

Current guidelines for DMD care include early treatment with glucocorticoids, as well as cardiorespiratory, orthopaedic and rehabilitative intervention. Improvement in standards of care has altered the natural history of the condition, leading to increased survival of a population of patients with special needs, from the late teens to the third or even fourth decades.… Read More...

F. Dahimene, A. Nadej-Pakleza, J. Durigneux, S. Mercier, Y. Pereon, A. Magot September 14, 2017

Becker muscular dystrophy (BMD) shares phenotypic similarities with Duchenne muscular dystrophy (DMD) because of their common genetic origin. Mutations involving Dp71 and Dp140 isoforms are known to be associated with mental retardation in DMD and BMD. The aim of our work was to study genotype- phenotype correlations in BMD patients with a particular interest to the cognitive functions.… Read More...

A. Schänzer, S. Rupp, G. Mall, H. Akintürk, D. Schramz, L. Gulatz, J. Thul, N. Mazhari, A. Hahn September 14, 2017

Myofibrillar myopathies (MFM) are a genetically heterogeneous group of neuromuscular disorders. Mutations in the Z-disk associated protein BAG3 (Bcl2-assocaited athonogene-3) gene result in multisystemic disease, and are mostly associated with dilative cardiomyopathies in adulthood. However a progressive restrictive cardiomyopathy (RCM) at young age has been described in a few patients with one specific mutation (c.626C T; p.Pro209Leu) in exon 3.… Read More...

A. Roos, A. Topf, V. Phan, J. Gonzalez Coraspe, M. Hauessler, J. Weis, H. Lochmüller, N. Kohlschmidt September 14, 2017

Loss-of-function mutations in the mitochondrial calcium uptake protein 1, encoded by the MICU1 gene, are causative for an early onset proximal myopathy, learning difficulties and a progressive extrapyramidal movement disorder. Here, we describe a three years old female patient carrying a homozygous nonsense MICU1 mutation (p.R185*) identified via whole-genome sequencing not described in the literature so far.… Read More...

Y. Blech-Hermoni, S. Coscia, L. Jensen, M. Kates, K. Subedi, A. Mankodi September 14, 2017

Myofibrillar myopathies (MFMs) are rare heterogeneous neuromuscular disorders characterized by aggregation of degraded myofibrillar products in skeletal muscle fibers. At least 6 genes including LDB3/ZASP, MYOT, DES, BAG3, CRYAB and FLNC have been identified in multiple international cohorts. MFMs are characterized by marked clinical variability.… Read More...

S. Roos, K. Sofou, C. Hedberg-Oldfors, G. Kollberg, U. Lindgren, C. Thomsen, J. Asin-Cayuela, M. Tulinius, A. Oldfors September 14, 2017

We present a 16-year-old girl with a life-long history of exercise intolerance. Laboratory investigations showed increased serum levels of acylcarnitines and increased urinary excretion of lactate and 2-hydroxyglutarate, consistent with multiple acyl-CoA dehydrogenase deficiency (MADD). Blood tests showed normal serum CK, increased liver transaminases and lactate, and mild anemia.… Read More...

R. Robertson, T. Conte, M. Dicaire, R. Bryson-Richardson, J. Lavoie, E. O'Ferrall, J. Young, B. Brais September 14, 2017

Bcl-2-associated athanogene 3 (BAG3) is a protein that serves as a co-chaperone to heat-shock proteins, inhibits apoptosis and facilitates the degradation of misfolded proteins. Mutations to BAG3, specifically the dominantly expressed BAG3P209L, can result in a severe childhood myofibrillar myopathy. Bag3 myofibrillar myopathy causes progressive muscle weakness with cardiomyopathy and respiratory failure developing in the second decade of life, eventually leading to death.… Read More...

H. Lee, Y. Lee September 14, 2017

Analysis of serum biomarkers, including lactate and the lactate-to-pyruvate (Lac/Pyr) ratio, and magnetic resonance spectroscopy (MRS) are useful for monitoring disease progression in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). We aim to evaluate the correlation of serum biomarkers and MRS parameters during changes associated with stroke-like episodes.… Read More...

A. Ruparelia, C. Williams, E. McKaige, V. Oorschot, E. Baxter, K. Schulze, G. Ramm, R. Bryson-Richardson September 14, 2017

Myofibrillar myopathies exhibit progressive muscle weakness and are characterized by structural failure of the muscle at the Z-disk and the formation of cytoplasmic protein aggregates. Mutations in the co-chaperone, and autophagy regulator, BAG3 are known to cause myofibrillar myopathy, with the first identified and most frequent mutation being BAG3P209L.… Read More...

B. Kierdaszuk, M. Kaliszewska, K. Tonska, E. Bartnik, A. Kaminska, A. Kostera-Pruszczyk September 14, 2017

Mitochondrial diseases are multisystem heterogeneous disorders caused by dysfunction of the mitochondrial respiratory chain. They can be related to mutations in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA). The diagnosis is essential for both genetic counseling as well as further treatment.… Read More...

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