Clinical spectrum and gene mutations in a Chinese cohort with Anoctaminopathy


Recessive mutations in anoctamin-5 (ANO5) are responsible for limb girdle muscular dystrophy(LGMD) 2L, the most prevalent forms of muscular dystrophy in Europe [1], as well as the non-dysferlin Miyoshi-like distal myopathy(MMD3) [2].The clinical manifestations of anoctaminopathy include presymptomatic hyperCKemia, myalgia, muscle stiffness [3], recurrent rhabdomyolysis and limb girdle muscle weakness. Suspected cardiomyopathy was also reported [4]. Muscle involvement in patients with anoctaminopathy was usually asymmetric and selective at early stage with preferential involvement of quadriceps, hamstrings and calves [5,6].


Leave A Reply