The limb-girdle muscular dystrophies (LGMD) are a collection of genetic diseases united in
their phenotypical expression of pelvic and shoulder area weakness and wasting. More than …

Limb girdle muscle dystrophies (LGMDs) are a group of inherited neuromuscular disorders
comprising more than 20 genes. There have been increasing efforts to characterize this …

Mutations in ANO5 (TMEM16E) cause limb-girdle muscular dystrophy R12. Defective
plasma membrane repair is a likely mechanism. Using myofibers from Ano5 knockout mice …

Objective ANO5‐related myopathy is an important cause of limb‐girdle muscular dystrophy
(LGMD) and hyperCKemia. The main descriptions have emerged from European cohorts …

Anoctaminopathy-5 refers to a group of hereditary skeletal muscle or bone disorders due to
mutations in the anoctamin 5 (ANO5)-encoding gene, ANO5. ANO5 is a 913-amino acid …

Abstract Anoctamin-5 (ANO5) is a multi-pass membrane protein localized to the sarcolemma
and the sarcoplasmic reticulum. Mutations were linked to rare autosomal recessive muscle …

Mutations in the Anoctamin 5 (Ano5) gene that result in the lack of expression or function of
ANO5 protein, cause Limb Girdle Muscular Dystrophy (LGMD) 2L/R12, and Miyoshi …

Recessive mutations in anoctamin-5 (ANO5) are causative for limb-girdle muscular
dystrophy (LGMD) 2 L and non-dysferlin Miyoshi-like distal myopathy (MMD3). ANO5 …

Objective To investigate the molecular basis of muscle disease and gnathodiaphyseal
dysplasia (GDD) in a large kindred with 11 (6 women and 5 men) affected family members …

Introduction: Recessive mutations in the anoctamin‐5‐encoding gene (ANO5) cause
muscular dystrophy of various phenotypes. Intramuscular interstitial amyloid deposits were …