Loss-of-function mutations in the mitochondrial calcium uptake protein 1, encoded by the MICU1 gene, are causative for an early onset proximal myopathy, learning difficulties and a progressive extrapyramidal movement disorder. Here, we describe a three years old female patient carrying a homozygous nonsense MICU1 mutation (p.R185*) identified via whole-genome sequencing not described in the literature so far. The patient presents with clinodactyly, gait ataxia, developmental delay, absent proprioceptive reflex and elevated CK (5532 U/L).

Read More...

Leave a comment.

Your email address will not be published. Required fields are marked*

Andoird App
Loading...