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Ullrich congenital muscular dystrophy

MIM.254090

Ullrich's congenital muscular dystrophy, UCMD, scleroatonic muscular dystrophy

 

Autosomal recessive congenital muscular dystrophy.

Clinical synopsis

-  neonatal muscle weakness.
-  multiple neonatal proximal joint contractures
-  limited spine motion
-  hyperextensible distal joints
-  hip dislocation.
-  hyperhidrosis
-  clumsy gait
-  difficulty climbing stairs
-  generalized muscle weakness
-  hypermobility of distal joints in conjunction with variable contractures of more proximal joints
-  normal intellectual development

Immunochemistry

-  abnormal immunoreactivity for collagen VI on muscle biopsies

ULtrastructure

-  ultrastructural abnormalities in skin biopsies (#15616974#)

Etiology

-  Recessive or dominant mutations in the three collagen VI genes (COL6s) ((#12840783#, #15563506#)


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