Teaching NeuroImages: characteristic phenotype of Ullrich congenital muscular dystrophy

Wendy K M Liew; Basil T Darras

doi:10.1212/WNL.0b013e3182a08d13

Teaching NeuroImages: characteristic phenotype of Ullrich congenital muscular dystrophy

Neurology. 2013 Aug 13;81(7):e44-5. doi: 10.1212/WNL.0b013e3182a08d13.

Authors

Wendy K M Liew¹, Basil T Darras

Affiliation

¹ Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. [email protected]

Abstract

A 21-year-old woman presented with clinically classic signs of Ullrich congenital muscular dystrophy¹ (figure). Genetic testing of collagen VI genes revealed a homozygous mutation c.2329T>C, p.Cys777Arg in the COL6A2 gene, consistent with the clinical diagnosis.

Publication types

Case Reports

MeSH terms

Collagen Type VI / genetics*
Female
Humans
Muscular Dystrophies / genetics*
Muscular Dystrophies / pathology*
Phenotype
Sclerosis / genetics*
Sclerosis / pathology*
Young Adult

Substances

COL6A2 protein, human
Collagen Type VI

Supplementary concepts

Scleroatonic muscular dystrophy