Limb-girdle muscular dystrophy type 2D (LGMD-2D) is caused by autosomal recessive defects in the alpha-sarcoglycan gene located on chromosome 17q21. In this study, we present a child with alpha-sarcoglycanopathy and describe a novel deletion in the alpha-sarcoglycan gene. A 5-year-old boy had a very high serum creatinine phosphokinase level, which was determined incidentally, and a negative mol...

INTRODUCTION Limb-girdle muscular dystrophy presents with heterogeneous clinical and molecular features. The primary characteristic of this disorder is proximal muscular weakness with variable age of onset, speed of progression, and intensity of symptoms. Sarcoglycanopathies, which are a subgroup of the limb-girdle muscular dystrophies, are caused by mutations in sarcoglycan genes. Mutations in...

BACKGROUND & OBJECTIVES Calpain-3, a Ca [2]+ -dependent protease has been implicated in the pathology of neuromuscular disorders (NMDs). The current study aimed to analyze calpain-3 expression in cases diagnosed as muscular dystrophy from the Indian population. METHODS Calpain-3 Western blot analysis in muscle biopsies of immunohistochemically confirmed cases of Duchenne muscular dystrophy (D...

the sarcoglycanopathies (sgps) are a subgroup of autosomal recessive limb girdle muscular dystrophies (lgmds). they are caused by mutations in gamma, alpha, beta, and delta sarcoglycans (sgs) genes. alpha-sgps are the most frequent form of sgps. muscle biopsy studies in patients with sarcoglycanopathies have indicated that loss of one sg subunit leads to instability of whole sg complex.  autozy...

Limb-girdle muscular dystrophies (LGMDs) represent a group of muscle diseases due to monogenic mutations encoding proteins that are defective for heterozygous and homozygous prevalent in certain regions. Advances knowledge their pathophysiology have shed light on these rare diseases, which were, until recently, difficult diagnose. This paper has described the process diagnosis autosomal recessi...

Twenty five patients with sarcoglycanopathies were studied prospectively. 21 of them had mild phenotype. Muscle involvement was more pronounced in adductor and flexor groups of muscles of the limbs, hip adductor muscles being the weakest. The selective and differential weakness between weak hip adductors and stronger hip abductors resulted in the hip abduction sign in 64% of cases. Distal muscl...

Limb girdle muscular dystrophies are heterogeneous autosomal hereditary neuromuscular disorders. They produce dystrophic changes on muscle biopsy and they are associated with mutations in several genes involved in muscular structure and function. Detailed clinical, laboratorial, imaging, diagnostic flowchart, photographs, tables, and illustrated diagrams are presented for the differential diagn...

Limb-girdle muscular dystrophy type 2E (LGMD-2E) is caused by autosomal recessive defects in the beta sarcoglycan (SGCB) gene located on chromosome 4q12. In this case report, the clinical findings, histopathological features and molecular genetic data in a boy with β sarcoglycanopathy are presented. An 18-month-old boy had a very high serum creatinine phosphokinase (CPK) level that was accident...