Phenotypic Spectrum of Myopathies with Recessive Anoctamin-5 Mutations.

Background: Biallelic variants in Anoctamin 5 (ANO5) gene are causative of limb-girdle muscular dystrophy (LGMD) R12 anoctamin5-related, non-dysferlin Miyoshi-like distal myopathy (MMD3), and asymptomatic hyperCKemia.

Objective: To describe clinic, histologic, genetic and imaging features, of ANO5 mutated patients.

Methods: Five patients, four from France (P1, P2, P3 and P4) and one from Mexico (P5), from four families were included.

Novel Phenotypes and Cardiac Involvement Associated With DNA2 Genetic Variants.

To report two novel gene mutations causing early onset myopathy with cardiac involvement and late onset mitochondriopathy with rhabdomyolysis. We performed detailed clinical, muscle histopathology and molecular studies including mitochondrial gene NGS analysis in two patients (Patient 1 and 2), a mother and her son, belonging to a Mexican family, and a third sporadic French patient. Patient 1 and 2 presented with an early onset myopathy associated with ptosis, velopharyngeal weakness, and cardiac involvement.