Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:P20020 (adenosine triphosphatase)
 3,299 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Eighteen-month-old identical twins with the muscle histological characteristics of congenital fiber type disproportion are reported. The fiber typing system of pH-dependent adenosine triphosphatase was used to analyze the size and percentage of type 1, 2A, and 2B fibers in muscle tissue obtained by needle biopsy. Both twins had significantly larger type 2 than type 1 fibers, with 2B fibers representing the largest type. One patient also had type 1 predominance at the expense of a reduction in 2B (2B deficiency). The probands as well as other family members had transient delayed motor development, macrocephaly, and normal intelligence. A biopsy obtained from 1 of these family members failed to demonstrate a similar histological abnormality. The disorder is nonprogressive in this family, as evidenced by minimal disability in the older members and gradual improvement in the probands.
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PMID:Congenital fiber type disproportion in identical twins. 56 60