M. Leach, A. Foley, G. Averion, Y. Hu, P. Yun, J. DeCoster, C. Arevalo, C. Mendoza, O. Mayer, R. Hausmann, K. Cheung, C. Bönnemann September 14, 2017

The congenital muscular dystrophies (CMDs) are a clinically and genetically heterogeneous group of disorders typically characterized by congenital onset weakness and a dystrophic-appearing muscle biopsy. Presently there are no approved medications for any CMD subtype. The anti-apoptotic compound N-(dibenz(b,f)oxepin-10-ylmethyl)-N-methyl-N-prop-2-ynylamine maleate (omigapil) demonstrated efficacy in inhibiting GAPDH-Siah1-mediated apoptosis in muscle with reduced weight loss and improved locomotor activity in a LAMA2-related dystrophy (LAMA2-RD) mouse model (dyw/ dyw mouse).… Read More...

C. von Landenberg, K. Kappes-Horn, M. Stepien-Mering, J. Reimann September 14, 2017

A 51-year-old caucasian woman presented with a 6 year history of, initially exercise dependent, proximal leg weakness. Her brain MRI showed extensive, predominantly supratentorial white matter changes, that could not be attributed to her known hypertension. She had a single grand mal seizure as a teenager upon photostimulation and suffers from migraine with aura.… Read More...

Y. Saito, A. Ishiyama, Y. Saito, E. Takeshita, Y. Shimizu-Motohashi, H. Komaki, K. Sugai, I. Nishino, M. Sasaki September 14, 2017

Here we report electrophysiological and pathological findings from peripheral nerves in three children (a boy and two girls, range 9–17 months) with clinically diagnosed, muscle biopsy-proven, merosin-deficient, congenital muscular dystrophy type 1A (MDC1A). We conducted pre-biopsy nerve conduction studies of the peripheral nerves in motor(median(M), ulner(U), tibial(T)) and sensory nerves(M, U, sural(S)).… Read More...

V. Guillet-Pichon, F. Leturcq, K. Claeys, C. Beroud, A. Nadaj-Pakleza September 14, 2017

Recessive mutations in LAMA2 commonly cause a severe early-onset congenital muscular dystrophy (CMD1A) and more rarely, a late-onset limb-girdle muscular dystrophy (LGMD). This mild phenotype is explained by a partial deficiency of the laminin α2 chain. Here, we report a non-consanguineous family with three subjects affected by a LGMD with onset in adulthood.… Read More...

H. Wang, R. Sprute, H. Daimagüler, S. Cirak September 14, 2017

ISPD (isoprenoid synthase domain containing) mutations cause a wide clinical spectrum of muscular dystrophies (dystroglycanopathies). Human ISPD is a cytidyltransferase, catalyses the reaction from CTP and Ribitol-5-phosphate to CDP-Ribitol, a novel nucleotide sugar for functional alpha-dystroglycan. hISPD has one conserved cytidyltransferase domain and a second functional unknown non-conserved domain.… Read More...

D. Velardo, E. Porrello, R. Tonlorenzi, I. Lorenzetti, R. Pardi, D. Goldhamer, S. Previtali September 14, 2017

Merosin deficient congenital muscular dystrophy (MDC1A) is an autosomal recessive disorder due to mutations in the LAMA2 gene, which encodes for the laminin211 component of the Schwann cell and muscle basal lamina. Consequence in patients is a progressive-wasting muscular dystrophy, dysmyelinating neuropathy, and brain abnormalities.… Read More...

S. Lindal, M. Alhamidi, V. Brox, E. Stensland, M. Liset, O. Nilssen September 14, 2017

Limb girdle musclular dystrophy type 2I (LGMD2I) is a progressive disorder caused by mutations in the FuKutin-Related Protein gene (FKRP). LGMD2I displays clinical heterogeneity with onset of severe symptoms in early childhood to mild calf and thigh hypertrophy in the second or third decade.… Read More...

E. Servián-Morilla, M. Cabrera-Serrano, H. Takeuchi, N. Muelas, E. Rivas-Infante, G. Cantero, F. Mavillard, J. Vilchez, C. Paradas September 14, 2017

Our group has recently described the human POGLUT1 p.D233E mutation that impairs Notch posttranslational modification and maintenance of muscle stem cells and leads to muscular degeneration and α-dystroglycan hypoglycosylation. Our patients display an adult-onset pure muscular phenotype, in contrast to the lethal, multisystemic phenotypes observed in animals with complete loss of POGLUT1.… Read More...

I. Nelson, M. Jacquemont, A. Urtizberea, M. Renouil, A. Boland, C. Masson, R. Ben Yaou, G. Bonne September 14, 2017

Congenital muscular dystrophies (CMD) represent a set of primary neuromuscular disorders of very heterogeneous nature, both clinically and genetically. A growing number of defective genes have been identified in this group. Among them, INPP5K, a gene encoding a phosphoinositide 5-phosphatase, has recently been found mutated in twelve families of various ethnic origins.… Read More...

A. Nascimento, C. Ortez, C. Jou, M. Alarcón, A. Bates, A. Topf, D. Itzep, D. Natera, A. Frongia, A. Codina, L. Gonzalez, G. Pia, V. Straub, C. Jimenez-Mallebrera, J. Colomer September 14, 2017

Congenital muscular dystrophies display a wide phenotypic and genetic heterogeneity. INPP5K encodes the inositol polyphosphate-5-phosphatase K, also known as SKIP (skeletal muscle and kidney enriched inositol phosphatase), which is highly expressed in the brain and muscle. INPP5K localizes to both the endoplasmic reticulum and to actin ruffles in the cytoplasm.… Read More...

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