Arch Fr Pediatr. 1978 Dec;35(10):1105-15.

[Familial congenital muscular dystrophy caused by phosphofructokinase deficiency].

[Article in French]

Guibaud P, Carrier H, Mathieu M, Dorche C, Parchoux B, Béthenod M, Larbre F.

Abstract

Two children, born to related parents, presented since birth a muscular defect rapidly complicated by painful joint stiffness. The oldest child died at 6 months of age, from respiratory complications. The second-14 month old- does not sit without support. The muscle fibres are of unequal calibre and numerous fibres have under-sarcolemmal PAS positive areas contain glycogen, as seen on electron microscopy. In the second patient, the biochemical analysis showed a moderate glycogen accumulation and muscular enzymatic studies demonstrated an isolated and major deficiency in phosphofructokinase activity. Activity was normal in red blood cells and in fibroblasts cultured in vitro. Hence, these cases should be distinguished from formerly reported cases of phosphofructokinase deficiency. This type of P.F.K. deficiency should be looked for in patients with severe congenital muscular dystrophy and early joint involvement.

PMID:: 155429; [PubMed - indexed for MEDLINE]

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Cited by 2 PubMed Central articles

Phosphofructo-1-kinase deficiency leads to a severe cardiac and hematological disorder in addition to skeletal muscle glycogenosis. [PLoS Genet. 2009]
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Heterogeneity of the molecular lesions in inherited phosphofructokinase deficiency.
Vora S, Davidson M, Seaman C, Miranda AF, Noble NA, Tanaka KR, Frenkel EP, Dimauro S. J Clin Invest. 1983 Dec; 72(6):1995-2006.

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