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PMID: 6490012 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't

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

Human genetics ·Vol. 67 ·No. 4 ·1984-00-00 ·Pages 460-2

Kaladhar Reddy B, Anandavalli TE, Reddi OS

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.

MeSH Terms
Consanguinity Creatine Kinase/blood Female Genetic Linkage Heterozygote Humans Male Middle Aged Muscular Dystrophies/diagnosis,genetics Pedigree Risk X Chromosome
Chemicals
Creatine Kinase
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Kaladhar Reddy B
Anandavalli T E
Reddi O S
References (17)
17 references, click to expand
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00291412
Published
1984-00-00
Pages
460-2
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00291412 View journal details
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