Hunt, Veronica van Heyningen, Michel Michaelides, Andrew R. Webster, Anthony T. [doi.org]

Alejandra Serrano León, Mandana Amir Shaghaghi, Natalia Yurkova, Charles N Bernstein, Hani El-Gabalawy and Peter Eck, Single-nucleotide polymorphisms in SLC22A23 are associated with ulcerative colitis in a Canadian white cohort, The American Journal of [doi.org]

head circumference LGMD2Q PLEC/Plectin Early childhood Moderate to high Moderate Atrophic musculature and contractures late LGMD2R DES / Desmin Early adulthood Moderate to high Moderate Proximal and distal weakness; facial muscle involvement; scapular [now.aapmr.org]

disorders syndrome X-linked hypophosphatemia X-linked intellectual disability due to GRIA3 mutations X-linked intellectual disability with isolated growth hormone deficiency X-linked intellectual disability with marfanoid habitus X-linked intellectual [se-atlas.de]

Image : “Gower’s sign.” by William Richard Gowers (1845–1915) – Gowers WR. Clinical lecture on pseudohypertrophic muscular paralysis. Lancet 1879;ii,73-5. [lecturio.com]

Is there a finding (or history) of Gower's sign? This is seen in patients with proximal muscle weakness of the lower limb: when rising to stand, they use the hands as support, such that the hands 'climb up the legs'. [patient.info]

Alejandra Serrano León, Mandana Amir Shaghaghi, Natalia Yurkova, Charles N Bernstein, Hani El-Gabalawy and Peter Eck, Single-nucleotide polymorphisms in SLC22A23 are associated with ulcerative colitis in a Canadian white cohort, The American Journal of [doi.org]