关键词： LGMD Z-disk proteinopathies calpainopathy caveolae-associated muscular dystrophies limb-girdle muscular dystrophies muscular dystrophies with defective membrane repair myofibrillar myopathy nuclear envelopathies sarcoglycanopathies α-dystroglycanopathies

Mesh ： Databases, Genetic Humans Muscle, Skeletal Muscular Dystrophies, Limb-Girdle / classification genetics pathology Phenotype

来  源：   DOI：10.1002/mus.26077   PDF(Sci-hub)

Abstract：
The limb-girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous, autosomal inherited muscular dystrophies with a childhood to adult onset, manifesting with hip- and shoulder-girdle muscle weakness. When the term LGMD was first conceptualized in 1954, it was thought to be a single entity. Currently, there are 8 autosomal dominant (LGMD1A-1H) and 26 autosomal recessive (LGMD2A-2Z) variants according to the Online Mendelian Inheritance in Man database. In addition, there are other genetically identified muscular dystrophies with an LGMD phenotype not yet classified as LGMD. This highlights the entanglement of LGMDs, which represents an area in continuous expansion. Herein we aim to simplify the complexity of LGMDs by subgrouping them on the basis of the underlying defective protein and impaired function. Muscle Nerve 58: 167-177, 2018.
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