Mutations in the gene MEGF10 causing a recessive congenital multiminicore myopathy

Case presentation: 5-year-old girl, born from a consanguineous couple, is referred to our service due weakness and hypotonia. It was necessary hospitalization, after birth, respiratory insufficiency severe motor delay already evident in the first months of life. At 6 she did not have head control at 12 able sit without support. She developed problems with apneas hypercapnia, 3 years age, that treated bilevel positive airway pressure ventilation. Because aspiration pneumonia gastrostomy indicated age 4. In her evaluation had axial proximal muscle weakness, facial scoliosis hypernasal speech. Despite presenting hypotonia gait difficulties, walk independently present cognitive impairment. neurological workup biopsy performed suggested multiminicore myopathy. A genetic investigation resulted homozygous mutation MEGF10 gene.