title: A family with McLeod syndrome and calpainopathy with clinically overlapping diseases.
abstract: 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.
authors.affiliation: Human Genome Research Center, University of São Paulo Medical School, São Paulo, Brazil.
authors.forename: A
authors.initials: A
authors.lastname: Starling
authors.forename: D
authors.initials: D
authors.lastname: Schlesinger
authors.forename: F
authors.initials: F
authors.lastname: Kok
authors.forename: M Rita
authors.initials: MR
authors.lastname: Passos-Bueno
authors.forename: M
authors.initials: M
authors.lastname: Vainzof
authors.forename: M
authors.initials: M
authors.lastname: Zatz
mesh_terms: D000293:Adolescent; D000328:Adult; D026921:Amino Acid Transport Systems, Neutral / Q000235:genetics; D002154:Calpain / Q000235:genetics*; D002819:Chorea / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D002874:Chromosome Mapping; D018389:Codon, Nonsense / Q000235:genetics; D004252:DNA Mutational Analysis; D040181:Genetic Diseases, X-Linked / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007527:Isoenzymes / Q000235:genetics*; D008297:Male; D018485:Muscle Fibers, Skeletal / Q000378:metabolism / Q000473:pathology; D009124:Muscle Proteins / Q000235:genetics*; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome
chemical_list: D026921:Amino Acid Transport Systems, Neutral; D018389:Codon, Nonsense; D007527:Isoenzymes; D009124:Muscle Proteins; C087883:XK protein, human; C105884:CAPN3 protein, human; D002154:Calpain