Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases.

ABSTRACT:

Background

Laminin α2 deficient congenital muscular dystrophy, caused by mutations in the LAMA2 gene, is characterized by early muscle weakness associated with abnormal white matter signal on cerebral MRI.

Objective

To report on 4 patients with LAMA2 gene mutations whose original clinical features complicated the diagnosis strategy.

Methods

Clinical, electrophysiological, muscle imaging and histopathological data were retrospectively collected from all patients. DNA samples were analysed by next-generation sequencing or direct gene sequencing. Laminin α2 was analysed by western-blot and immunohistochemistry.

Results

The four patients achieved independent walking. All had proximal muscle weakness with scapular winging and prominent joint contractures without per

SUBMITTER: Nelson I 

PROVIDER: S-EPMC5240538 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature