Posts Categorized: Part 25: MUSCLE

Mutation in DMD as a cause of non-specific X-linked intellectual disability without overt muscular dystrophy

Posted by & filed under Part 25: MUSCLE, Part 28: NEUROGENETICS, _.

de Brouwer et al. A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy. European Journal of Human Genetics (2014) 22, 480–485.   A very interesting observation, underlining the importance of dystrophin isoforms for the understanding of genotype-phenotype correlations in DMD-associated disorders. The authors describe a family with non-specific X-linked intellectual disability and no clinically observable […]

Targeting nuclear RNA for in vivo correction of myotonic dystrophy.

Posted by & filed under Part 25: MUSCLE, Part 28: NEUROGENETICS, Part 30: MULTISYSTEM INBORN ERRORS OF DEVELOPMENT, Treatment.

Myotonic dystrophy type 1 (DM1) is an autosomal dominant disorder characterized by myotonia, weakness, cardiac arrhythmias, diabetes and cognitive deficits. Patients carry an expansion of the CTG DNA repeat sequence in the DMPK gene. As a result, when the mutant gene is expressed, it yields a toxic messenger RNA molecule (a gain-of-function effect). In addition […]

ERT for late-onset Pompe disease

Posted by & filed under Part 16: LYSOSOMAL DISORDERS, Part 25: MUSCLE.

van der Ploeg AT et al. A randomized study of alglucosidase alfa in late-onset Pompe’s disease. N Engl J Med. 2010 Apr 15;362(15):1396-406 In this study, alglucosidase alfa resulted in improved walking distance and stabilization of pulmonary function for patients with late-onset Pompe’s disease. posted by Philippe Campeau

Congenital myasthenic syndromes

Posted by & filed under Part 21: MEMBRANE TRANSPORT DISORDERS, Part 25: MUSCLE.

Science. 2006 Sep 29;313(5795):1975-8. Dok-7 mutations underlie a neuromuscular junction synaptopathy. Beeson D, Higuchi O, Palace J, Cossins J, Spearman H, Maxwell S, Newsom-Davis J, Burke G, Fawcett P, Motomura M, Muller JS, Lochmuller H, Slater C, Vincent A, Yamanashi Y.   A new gene involved in a congenital myasthenic syndrome, in this case with […]