RNA helicases are highly conserved proteins that use nucleoside triphosphates to bind or
remodel RNA, RNA–protein complexes or both. RNA helicases are classified into the DEAD …

Spinal muscular atrophies (SMAs) are hereditary degenerative disorders of lower motor
neurons associated with progressive muscle weakness and atrophy. Proximal 5q SMA is …

INTRODUCTION Clinical context and need for a guideline Neuromuscular diseases as a
group are relatively common with a prevalence of about 1 in 3000. The majority of these …

Using a combination of exome sequencing and linkage analysis, we investigated an English
family with two affected siblings in their 40s with recessive Charcot-Marie Tooth disease type …

Distal spinal muscular atrophy type 1 (DSMA1) is an autosomal recessive disease that is
clinically characterized by distal limb weakness and respiratory distress. In this disease, the …

RNA helicases constitute a large protein family implicated in cellular RNA homeostasis and
disease development. Here, we show that the RNA helicase IGHMBP2, linked to the …

Infantile myopathies with diaphragmatic paralysis are genetically heterogeneous, and
clinical symptoms do not assist in differentiating between them. We used phased haplotype …

Background IGHMBP2 is a crucial gene for the development and maintenance of the
nervous system, especially in the survival of motor neurons. Mutations in this gene have …

Background: Only scarce information is available on the long-term outcome and the natural
course of children with infantile spinal muscular atrophy with respiratory distress type 1 …

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal
recessive neuromuscular disorder caused by mutations in the IGHMBP2 gene, which …