A family with McLeod syndrome and calpainopathy with clinically overlapping diseases.
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.
Starling
A
A
Human Genome Research Center, University of São Paulo Medical School, São Paulo, Brazil.
Schlesinger
D
D
Kok
F
F
Passos-Bueno
M Rita
MR
Vainzof
M
M
Zatz
M
M
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
D026921:Amino Acid Transport Systems, Neutral; D018389:Codon, Nonsense; D007527:Isoenzymes; D009124:Muscle Proteins; C087883:XK protein, human; C105884:CAPN3 protein, human; D002154:Calpain