Juvenile-onset permanent weakness in muscle phosphofructokinase deficiency

Journal of the Neurological Sciences

Volumn 316, Issue 1-2, 2012, Pages 173-177

  Malfatti, Edoardo ^a,b   Birouk, Nazha ^c   Romero, Norma B ^a,d,g   Piraud, Monique ^e   Petit, François M ^f   Hogrel, Jean Yves ^d   Laforêt, Pascal ^g  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b UNIVERSITY OF SIENA   (Italy)

^c IBN SINA HOSPITAL   (Morocco)

^d SORBONNE UNIVERSITÉ   (France)

^e HOSPICES CIVILS DE LYON   (France)

^f HÔPITAL ANTOINE BÉCLÈRE   (France)

^g ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

Author keywords

Glycogen storage disease type VII; Muscle glycogenosis; PFKM; Phosphofructokinase deficiency; Polyglucosan

Indexed keywords

6 PHOSPHOFRUCTOKINASE; POLYSACCHARIDE;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GLYCOGEN STORAGE DISEASE; GLYCOGEN STORAGE DISEASE TYPE 5; HEMOLYTIC ANEMIA; HUMAN; MUSCLE CELL; MUSCLE WEAKNESS; MYOPATHY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RHABDOMYOLYSIS;

ADULT; AGE FACTORS; FEMALE; GLYCOGEN STORAGE DISEASE TYPE VII; HUMANS; MUSCLE WEAKNESS; MUTATION, MISSENSE;

EID: 84859443803     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2012.01.027     Document Type: Article

References (24)

1. S. Tsujino, S. Servidei, P. Tonin, S. Shanske, G. Azan, and S. DiMauro Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency Am J Hum Genet 54 1994 812 819
2. R. Amit, N. Bashan, J.M. Abarbanel, Y. Shapira, S. Sofer, and S. Moses Fatal familial infantile glycogen storage disease: multisystem phosphofructokinase deficiency Muscle Nerve 15 1992 455 458
3. S. Tarui, G. Okuno, Y. Ikura, T. Tanaka, M. Suda, and M. Nishikawa Phosphofructokinase deficiency in skeletal muscle. A new typer of glycogenosis Biochem Biophys Res Commun 19 1965 517 523
4. S. Di Mauro, A.P. Hays, and S. Tsujino Metabolic disorders affecting muscle Myology 55 2004 McGraw-Hill New York 1535 1558
5. A.P. Hays, M. Hallett, J. Delfs, J. Morris, A. Sotrel, and M.M. Shevchuk Muscle phosphofructokinase deficiency: abnormal polysaccharide in a case of late-onset myopathy Neurology 31 1981 1077 1086
6. H. Nakajima, N. Raben, T. Hamaguchi, and T. Yamasak Phosphofructokinase deficiency; past, present and future Curr Mol Med 2 2002 197 212
7. J.B. Sherman, N. Raben, C. Nicastri, Z. Argov, H. Nakajima, and E.M. Adams Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII- and their population frequency Am J Hum Genet 55 1994 305 313
8. M. Hirano, and S. Di Mauro Metabolic myopathies Motor disorders 10 1999 Lippincott Williams & Wilkins Philadelphia 123 137
9. S. Vora, M. Davidson, C. Seaman, A.F. Miranda, N.A. Noble, and K.R. Tanaka Heterogeneity of the molecular lesions in inherited phosphofructokinase deficiency J Clin Invest 72 1983 1995 2006
10. J.Y. Hogrel, P. Laforêt, R. Ben Yaou, M. Chevrot, B. Eymard, and A. Lombès A non-ischemic forearm exercise test for the screening of patients with exercise intolerance Neurology 26 56 2001 1733 1738
11. C. Bruno, C. Minetti, S. Shanske, G. Morreale, M. Bado, and G. Cordone Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria Neurology 50 1998 296 298
12. R.G. Haller No spontaneous second wind in muscle phosphofructokinase deficiency Neurology 62 1 2004 82 86
13. A. Berardo, S. DiMauro, and M. Hirano A diagnostic algorithm for metabolic myopathies Curr Neurol Neurosci Rep 10 2 2010 118 126
14. P. Guibaud, H. Carrier, M. Mathieu, J. Gilly, and F. Larbre Familial congenital muscular dystrophy caused by phosphofructokinase deficiency Arch Fr Pediatr 35 1978 1105 1115
15. M.J. Danon, S. Carpenter, J.R. Manaligod, and L.H. Schliselfeld Fatal infantile glycogen storage disease: deficiency of phosphofructokinase and phosphorylase b kinase Neurology 31 1981 1303 1307
16. S. Servidei, E. Bonilla, R.G. Diedrich, M. Kornfeld, J.D. Oates, and M. Davidson Fatal infantile form of muscle phosphofructokinase deficiency Neurology 36 1986 1465 1470
17. R. Amit, N. Bashan, J.M. Abarbanel, Y. Shapira, S. Sofer, and S. Moses Fatal familial infantile glycogen storage disease: multisystem phosphofructokinase deficiency Muscle Nerve 15 1992 455 458
18. G. Serratrice, A. Monges, H. Roux, R. Aquaron, and D. Gambarelli Myopathic form of phosphofructokinase deficiency Rev Neurol (Paris) 120 1969 271 277
19. Z. Argov, V. Barash, D. Soffer, J. Sherman, and N. Raben Late-onset muscular weakness in phosphofructokinase deficiency due to exon 5/intron 5 junction point mutation: a unique disorder or the natural course of this glycolytic disorder? Neurology 44 1994 1097 1100
20. M.J. Danon, S. Servidei, S. DiMauro, and S. Vora Late-onset muscle phosphofructokinase deficiency Neurology 38 1988 956 960
21. K. Sivakumar, O. Vasconcelos, L. Goldfarb, and M.C. Dalakas Late-onset muscle weakness in partial phosphofructokinase deficiency: a unique myopathy with vacuoles, abnormal mitochondria, and absence of the common exon 5/intron 5 junction point mutation Neurology 46 1996 1337 1342
22. R. Massa, R. Lodi, B. Barbiroli, S. Servidei, G. Sancesario, and G. Manfredi Partial block of glycolysis in late-onset phosphofructokinase deficiency myopathy Acta Neuropathol 91 1996 322 329
23. D.P. Agamanolis, A.D. Askari, S. Di Mauro, A. Hays, K. Kumar, and M. Lipton Muscle phosphofructokinase deficiency: two cases with unusual polysaccharide accumulation and immunologically active enzyme protein Muscle Nerve 3 1980 456 467
24. A.L. Taratuto, H.O. Akman, M. Saccoliti, M. Riudavets, N. Arakaki, and L. Mesa Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: muscle biopsy and autopsy findings, biochemical and molecular genetic studies Neuromuscul Disord 20 12 2010 783 790