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Effect of cytoplasmic activator on (Ca2+ + Mg2+)-ATPase activity of erythrocyte membranes in Duchenne muscular dystrophy.

Kaladhar Reddy, B.

Indian J Med Res ; 85: 302-5, 1987 Mar.

Article in English | MEDLINE | ID: mdl-2956190

Subject(s)

Blood Proteins/pharmacology , Ca(2+) Mg(2+)-ATPase/blood , Calcium-Transporting ATPases/blood , Erythrocyte Membrane/enzymology , Muscular Dystrophies/blood , Enzyme Activation/drug effects , Humans , In Vitro Techniques

X-linked Duchenne muscular dystrophy in an unusual family with manifesting carriers.

Kaladhar Reddy, B; Anandavalli, T E; Reddi, O S.

Hum Genet ; 67(4): 460-2, 1984.

Article in English | MEDLINE | ID: mdl-6490012

ABSTRACT

We report a unique case of a 46-year-old female who had signs of Duchenne-like muscular dystrophy on clinical, electromyographic, and laboratory investigation. A brother, sister, maternal uncle, and her own son also had Duchenne type muscular dystrophy. Karyotype analysis in the proband showed both the X chromosomes to be morphologically normal. We discuss different hypothetical mechanisms to account for the family pedigree.

Subject(s)

Heterozygote , Muscular Dystrophies/genetics , X Chromosome , Consanguinity , Creatine Kinase/blood , Female , Genetic Linkage , Humans , Male , Middle Aged , Muscular Dystrophies/diagnosis , Pedigree , Risk

Subject(s)

ABSTRACT

Subject(s)

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