Last update 19 Sep 2024

Muscular Dystrophy Congenital, Merosin Negative

Basic Info

Synonyms
CMD1A, CMD1A - congenital muscular dystrophy type 1A, Congenital muscular dystrophy due to laminin alpha2 deficiency
+ [17]
Introduction
An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the LAMA2 gene. It is characterized by severe hypotonia, muscle weakness, elevated levels of serum creatinine kinase, and white matter abnormalities.

Analysis

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