Congenital myopathies are a clinical and genetic heterogeneous group of early onset muscle diseases. Mutations in HACD1 gene cause congenital centronuclear myopathy in dogs and have also been recently described in one consanguineous Bedouin family with congenital myopathy that improved with age. We report herein the second family with congenital myopathy due to HACD1 mutations. Clinical data were collected from the family members. Skeletal muscle biopsies were performed in two patients. The HACD1 mutation was identified by next-generation sequencing.

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