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NEUROLOGY 2005;65:1832-1833
© 2005 American Academy of Neurology
Brief Communications

A family with McLeod syndrome and calpainopathy with clinically overlapping diseases

A. Starling, PhD, D. Schlesinger, MD, F. Kok, MD, PhD, M. Rita Passos-Bueno, PhD, M. Vainzof, PhD and M. Zatz, PhD

From the Human Genome Research Center (Drs. Starling, Schlesinger, Vainzof, Zatz), Department of Biology, University of São Paulo and Department of Neurology (Dr. Kok), University of São Paulo Medical School, São Paulo, Brazil.

Address correspondence and reprint requests to Dr. Mayana Zatz, Centro de Estudos do Genoma Humano, Universidade de São Paulo, Rua do Matão 277/212 Cidade Universitária, São Paulo, Brazil, 05508-900; e-mail: mayazatz{at}usp.br

The authors describe a family with six patients with muscular dystrophy with a variable course. One is a compound heterozygote for CAPN3 mutations (calpainopathy) and the others have a single CAPN3 mutation. Linkage analysis and sequencing revealed a XK gene mutation (McLeod syndrome). This illustrates the variable phenotype of XK mutations and suggests the possibility that CAPN3 heterozygotes may have their condition caused by nonallelic mutations in other unrelated genes.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the December 13 issue to find the title link for this article

Disclosure: The authors report no conflicts of interest.

Received February 22, 2005. Accepted in final form August 17, 2005.




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