P2.49 Myopathies with mutations in anoctamin 5: Phenotype and gene mutations in a French cohort

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Mutations in the anoctamin 5 (ANO5) gene, which encodes a putative calcium-activated chloride channel, have been described in patients with recessive limb-girdle muscular dystrophy (LGMD2L) and distal myopathies. The genetic screening of 42 French patients exhibiting morbid phenotypes compatible with a defect in this gene has led to the diagnosis of 10 cases (25% of cases) stemming from 9 families. Among those, we recognized 3 cases of distal Miyoshi-like myopathy with normal dysferlin, 4 cases of LGMD with generally asymmetric muscle involvement with prominent involvement of the quadriceps muscle, and 3 cases of highly elevated CK with no muscle weakness.