Ullrich disease: collagen VI deficiency: EM suggests a new basis for muscular weakness.
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.
Ishikawa
H
H
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo.
Sugie
K
K
Murayama
K
K
Ito
M
M
Minami
N
N
Nishino
I
I
Nonaka
I
I
D002675:Child, Preschool; D003095:Collagen Diseases / Q000235:genetics / Q000473:pathology; D024142:Collagen Type VI / Q000172:deficiency* / Q000235:genetics* / Q000648:ultrastructure; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D018908:Muscle Weakness / Q000151:congenital / Q000235:genetics* / Q000473:pathology*; D009136:Muscular Dystrophies / Q000151:congenital / Q000235:genetics / Q000473:pathology; D009154:Mutation / Q000235:genetics
D024142:Collagen Type VI