RT Journal Article
SR Electronic
T1 Ullrich disease: Collagen VI deficiency: EM suggests a new basis for muscular weakness
JF Neurology
JO Neurology
FD Lippincott Williams & Wilkins
SP 920
OP 923
DO 10.1212/WNL.59.6.920
VO 59
IS 6
A1 Ishikawa, H.
A1 Sugie, K.
A1 Murayama, K.
A1 Ito, M.
A1 Minami, N.
A1 Nishino, I.
A1 Nonaka, I.
YR 2002
UL http://n.neurology.org/content/59/6/920.abstract
AB Ullrich disease is a form of congenital muscular dystrophy characterized clinically by generalized muscle weakness, contractures of the proximal joints, and hyperflexibility of the distal joints from birth or early infancy. Recently, mutations of the collagen VI gene have been associated with Ullrich disease. The authors report on a boy with Ullrich disease who has complete deficiency of collagen VI and harbors compound heterozygous mutations in the collagen VI alpha 2 gene. Absence of microfibrils on EM, together with normal collagen fibrils and basal lamina, suggests that loss of a link between interstitium and basal lamina may be a new molecular pathomechanism of muscular dystrophy.