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Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy
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Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy

Published on: May 24, 2016

[Familial congenital muscular dystrophy caused by phosphofructokinase deficiency]

P Guibaud, H Carrier, M Mathieu

    Archives Francaises De Pediatrie
    |December 1, 1978
    PubMed

    Insights

    This study identifies a rare congenital muscular dystrophy linked to phosphofructokinase (PFK) deficiency. This specific PFK deficiency presents in infants with severe muscle weakness and joint stiffness.

    Area of Science:

    • Biochemistry
    • Genetics
    • Pediatric Neurology

    Background:

    • Congenital muscular dystrophies (CMDs) are a group of inherited disorders characterized by muscle weakness present from birth.
    • Phosphofructokinase (PFK) deficiency is a known cause of glycogen storage diseases, affecting muscle and red blood cells.

    Observation:

    • Two infants from a consanguineous family presented with severe congenital muscular defect and progressive joint stiffness.
    • Muscle biopsy revealed abnormal glycogen accumulation and unequal muscle fiber size.
    • Electron microscopy showed subsarcolemmal PAS-positive areas containing glycogen.

    Findings:

    • Biochemical analysis in the affected infant demonstrated moderate glycogen accumulation.
    • Muscular enzymatic studies revealed a significant and isolated deficiency in phosphofructokinase (PFK) activity.
    • PFK activity was normal in red blood cells and cultured fibroblasts, differentiating it from other known PFK deficiencies.

    Implications:

    • This specific PFK deficiency should be considered in the differential diagnosis of severe congenital muscular dystrophy with early-onset joint involvement.
    • Understanding this distinct enzymatic defect can aid in earlier diagnosis and management of affected children.
    • Further research into the genetic basis and precise biochemical pathway of this PFK deficiency is warranted.

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