Vázquez HG, Bravo OA, Rodríguez LI, Rodríguez RJ, Romero AV, Volker S

Language: Spanish
References: 5
Page: 155-158
PDF size: 281.48 Kb.

ABSTRACT

Muscular dystrophies are one of the disorders in the general neurologist has diagnostic difficulties and the need for expensive laboratory test results and specific training. The divulgation of rare cases is necessary to increase the knowledge in this area.
We report the case of a female patient fourth decade of life with chronic neuromuscular disease, we performed clinical examination, biopsy, immunohistochemistry, electrophysiology and molecular studies, obtaining a diagnosis of deltasarcoglycanopathy.

REFERENCES

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2. Hamida MB, Fardeau M, Attia N. Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia. Muscle Nerve 1983; 6: 469-80.

3. Volker S, et al, sarcoglycanopathies; can muscle immunoanalysis predict the genotype? Neuromuscular Disorders 2008; 18: 934-41.

4. Duggan DJ, Manchester D, Stears KP, et al. Mutations in the deltasarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2). Neurogenetics 1997b; 1: 49-58.

5. Daniele N, Richard I, Bartoli M. Ins and outs of therapy in limb girdle muscular dystrophies. Int J Biochem Cell Biol 2007; 39(9): 1608-24.