Nota Clínica

Muscular dystrophy due to a deficit of gsarcoglycan. A report of three patients with the d-521t mutation

J. Eirís-Puñal, E. Pintos-Martínez, A. Lasa, P. Gallano, M. Castro-Gago [REV NEUROL 2002;34:486-489] PMID: 12040521 DOI: https://doi.org/10.33588/rn.3405.2001160

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Volumen 34 | Number 05 | Nº of views of the article 7.847 | Nº of PDF downloads 398 | Article publication date 01/03/2002

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ABSTRACT

INTRODUCTION gsarcoglicanopathies, also classified as limb girdle muscular dystrophy type 2C (LGMD2C) are a group of autosomal recessive muscular dystrophies due to mutations in 13q12 and subsequent gsarcoglican deficiency. The protein is one of the components of the dystrophinassociated gycoprotein complex and is thought to impart structural integrity to the myofibre. The clinical course of the disease may be heterogeneous, ranging from severe forms whith onset in the first decade and rapid progression resembling Progressive Duchenne muscular dystrophy (DMD) to milder forms with later onset and slower course. Cases hitherto reported in Spain corresponds to gypsie patients, homozygous for C283Y missense mutation. CASE REPORTS. Here, we report three new galician (Northwest Spain) patients (one male and one female sibling cases) with a severe DMDlike muscular dystrophy homozygous for D521T. In the first male familial case, initial diagnosis of DMD was made. On reevaluation fourteen years later, inmunohistochemical and molecular studies allowed for a definitive gsarcoglicanopathy diagnosis.

CONCLUSIONS Patients with a primary sarcoglycanopathy may be clynically indistinguishable from those with the primary dystrophinopathies. Probably, the diagnosis of LGMD are underestimated and a number of male patients diagnosed as DMD really corresponds to a recessive form o muscular dystrophy. Consequently, a definitive diagnosis rests on appropriate inmunohistochemical and molecular analysis, specially in those patients showing a normal pattern of dystrophin and/or suggestive for an autosomal recessive mode of inheritance. Keywords521T deletion gsarcoglicanopathy Limb girdle muscular dystrophy Protein complex associated with dystrophin Sarcoglycan complex CategoriesNervios periféricos, unión neuromuscular y músculo

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Nota Clínica

Muscular dystrophy due to a deficit of g­sarcoglycan. A report of three patients with the d-521t mutation

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Muscular dystrophy due to a deficit of gsarcoglycan. A report of three patients with the d-521t mutation