<p>The clinical presentation of progressive limb-girdle muscular dystrophy type 2A (LGMD2A) is due to loss of functionally active cal-pain-3, a skeletal muscle specific isoform of one of the calpain family proteins involved in the regulation of different tissue processes. The function of calpain-3 and the pathophysiological mechanism of LGMD2A are still not fully understood. The article discusses the features of the pathogenesis, clinical presentation, and diagnosis of LGMD2A and the possible administration of calpain-3 trans-genes as a specific therapy for this disease. Two clinical cases of patients with this condition are given.</p
Introduction: Calpain 3 deficiency causes limb girdle muscular dystrophy type 2A, which is one of th...
We report on the clinical, pathological, and genetic features of 7 patients with limb-girdle muscula...
International audienceCalpainopathies are inherited limb-girdle muscular dystrophies, most often fol...
Limb girdle muscular dystrophy type 2A (LGMD2A) is caused by mutations in the calpain 3 gene. In a l...
Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive disorder characterized by ...
AbstractLimb girdle muscular dystrophy type 2A results from mutations in the gene encoding the calpa...
Limb girdle muscular dystrophy type 2A results from mutations in the gene encoding the calpain 3 pro...
Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive disorder characterized mai...
AbstractLimb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive disorder character...
Limb-girdle muscular dystrophies (LGMDs) are a group of inherited diseases whose genetic etiology ha...
Limb girdle muscular dystrophies (LGMDs) are a group of clinically heterogeneous genetic diseases ch...
18 p.-8 fig.-1 tab.Limb-girdle muscular dystrophy R1 calpain 3-related (LGMDR1) is an autosomal rece...
Limb girdle muscular dystrophies (LGMD) are characterized by involvement of the pelvic and shoulder ...
Limb-girdle muscular dystrophy type 2A (LGMD2A) is a recessive genetic disorder caused by mutations ...
AbstractLimb-girdle muscular dystrophies (LGMDs) are a group of inherited diseases whose genetic eti...
Introduction: Calpain 3 deficiency causes limb girdle muscular dystrophy type 2A, which is one of th...
We report on the clinical, pathological, and genetic features of 7 patients with limb-girdle muscula...
International audienceCalpainopathies are inherited limb-girdle muscular dystrophies, most often fol...
Limb girdle muscular dystrophy type 2A (LGMD2A) is caused by mutations in the calpain 3 gene. In a l...
Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive disorder characterized by ...
AbstractLimb girdle muscular dystrophy type 2A results from mutations in the gene encoding the calpa...
Limb girdle muscular dystrophy type 2A results from mutations in the gene encoding the calpain 3 pro...
Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive disorder characterized mai...
AbstractLimb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive disorder character...
Limb-girdle muscular dystrophies (LGMDs) are a group of inherited diseases whose genetic etiology ha...
Limb girdle muscular dystrophies (LGMDs) are a group of clinically heterogeneous genetic diseases ch...
18 p.-8 fig.-1 tab.Limb-girdle muscular dystrophy R1 calpain 3-related (LGMDR1) is an autosomal rece...
Limb girdle muscular dystrophies (LGMD) are characterized by involvement of the pelvic and shoulder ...
Limb-girdle muscular dystrophy type 2A (LGMD2A) is a recessive genetic disorder caused by mutations ...
AbstractLimb-girdle muscular dystrophies (LGMDs) are a group of inherited diseases whose genetic eti...
Introduction: Calpain 3 deficiency causes limb girdle muscular dystrophy type 2A, which is one of th...
We report on the clinical, pathological, and genetic features of 7 patients with limb-girdle muscula...
International audienceCalpainopathies are inherited limb-girdle muscular dystrophies, most often fol...