Non-lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations

Muscle and Nerve

Volumn 41, Issue 2, 2010, Pages 269-271

  Fernandez, Carla ^a   Halbert, Cécile ^a   De Paula, André Maues ^a   Lacroze, Valerié ^b   Froissart, Roseline ^c   Figarella Branger, Dominique ^a   Chabrol, Brigitte ^a   Pellissier, Jean François ^a  

^a TIMONE HOSPITAL   (France)

^b HÔPITAL DE LA CONCEPTION   (France)

^c Centre de Biologie et de Pathologie Est   (France)

Author keywords

Amylopectin; Andersen disease; Fetal akinesia; Floppy infant; Glycogen branching enzyme; Glycogen storage disease type IV; Muscle biopsy

Indexed keywords

1,4 ALPHA GLUCAN BRANCHING ENZYME; ACID PHOSPHATASE; AMYLASE; AMYLOPECTIN; CREATINE KINASE; SURVIVAL MOTOR NEURON PROTEIN 1;

ANKLE; APGAR SCORE; ARTICLE; ARTIFICIAL VENTILATION; BIRTH WEIGHT; BODY HEIGHT; BRAIN; BRAIN VENTRICLE DILATATION; BREATHING; CASE REPORT; CELL AGGREGATION; CELL SIZE; CELL ULTRASTRUCTURE; CELL VACUOLE; CHILD; CLINICAL FEATURE; COUGHING; CREATINE KINASE BLOOD LEVEL; DISEASE SEVERITY; DYSPHAGIA; ECHOCARDIOGRAPHY; ELECTROMYOGRAPHY; ELECTRON MICROSCOPY; ENTERIC FEEDING; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXON; FEMALE; FETUS MOVEMENT; FIBROBLAST CULTURE; FOOT; GENETIC VARIABILITY; GESTATIONAL AGE; GLYCOGEN STORAGE DISEASE TYPE 4; GRANULATION TISSUE; HEAD CIRCUMFERENCE; HETEROZYGOTE; HIP; HUMAN; HUMAN TISSUE; HYPOREFLEXIA; INFANTILE HYPOTONIA; INTRON; JOINT CONTRACTURE; KARYOTYPE; KNEE; LIMB MOVEMENT; MISSENSE MUTATION; MUSCLE BIOPSY; MUSCLE CELL; MYOFIBROSIS; MYOPATHY; MYOTONIA; MYOTONIC DYSTROPHY; NASOGASTRIC TUBE; NECK; NON INVASIVE PROCEDURE; NUCLEAR MAGNETIC RESONANCE IMAGING; PERIODIC ACID SCHIFF STAIN; PHYSIOTHERAPY; POSITIVE END EXPIRATORY PRESSURE; PRIORITY JOURNAL; QUADRICEPS FEMORIS MUSCLE; RARE DISEASE; SLEEP; STANDING; STOMACH TUBE; SUBARACHNOID SPACE; SUCKING; SURVIVAL TIME; WALKING DIFFICULTY;

EID: 76649084528     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.21499     Document Type: Article

References (16)

1. Moses SW, Parvari R. The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies. Curr Mol Med 2002;2:177-188.
2. Tang TT, Segura AD, Chen YT, Ricci LM, Franciosi RA, Splaingard ML, et al. Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis. Acta Neuropathol 1994;87:531-536.
3. Bao Y, Kishnani P, Wu JY, Chen YT. Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. J Clin Invest 1996;97: 941-948.
4. Cox PM, Brueton LA, Murphy KW, Worthington VC, Bjelogrlic P, Lazda EJ, et al. Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis. Am J Med Genet 1999;86:187-193.
5. Nambu M, Kawabe K, Fukuda T, Okuno TB, Ohta S, Nonaka I, et al. A neonatal form of glycogen storage disease type IV. Neurology 2003;61:392-394.
6. Tay SK, Akman HO, Chung WK, Pike MG, Muntoni F, Hays AP, et al. Fatal infantile neuromuscular presentation of glycogen storage disease type IV. Neuromuscul Disord 2004;14:253-260.
7. Janecke AR, Dertinger S, Ketelsen UP, Bereuter L, Simma B, Muller T, et al. Neonatal type IV glycogen storage disease associated with "null" mutations in glycogen branching enzyme 1. J Pediatr 2004; 145:705-709.
8. Giuffre B, Parini R, Rizzuti T, Morandi L, van Diggelen OP, Bruno C, et al. Severe neonatal onset of glycogenosis type IV: clinical and laboratory findings leading to diagnosis in two siblings. J Inherit Metab Dis 2004;27:609-619.
9. Bruno C, van Diggelen OP, Cassandrini D, Gimpelev M, Giuffre B, Donati MA, et al. Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). Neurology 2004;63: 1053-1058.
10. L'Hermine-Coulomb A, Beuzen F, Bouvier R, Rolland MO, Froissart R, Menez F, et al. Fetal type IV glycogen storage disease: clinical, enzymatic, and genetic data of a pure muscular form with variable and early antenatal manifestations in the same family. Am J Med Genet A 2005;139A:118-122.
11. Burrow TA, Hopkin RJ, Bove KE, Miles L, Wong BL, Choudhary A, et al. Non-lethal congenital hypotonia due to glycogen storage disease type IV. Am J Med Genet A 2006;140A:878-882.
12. Bruno C, Cassandrini D, Assereto S, Akman HO, Minetti C, Di Mauro S. Neuromuscular forms of glycogen branching enzyme deficiency. Acta Myol 2007;26:75-78.
13. Assereto S, van Diggelen OP, Diogo L, Morava E, Cassandrini D, Carreira I, et al. Null mutations and lethal congenital form of glycogen storage disease type IV. Biochem Biophys Res Commun 2007;361: 445-450.
14. Raju GP, Li HC, Bali DS, Chen YT, Urion DK, Lidov HG, et al. A case of congenital glycogen storage disease type IV with a novel GBE1 mutation. J Child Neurol 2008;23:349-352.
15. Nolte KW, Janecke AR, Vorgerd M, Weis J, Schroder JM. Congenital type IV glycogenosis: the spectrum of pleomorphic polyglucosan bodies in muscle, nerve, and spinal cord with two novel mutations in the GBE1 gene. Acta Neuropathol 2008;116:491-506.
16. Lossos A, Barash V, Soffer D, Argov Z, Gomori M, Ben- Nariah Z, et al. Hereditary branching enzyme dysfunction in adult polyglucosan body disease: a possible metabolic cause in two patients. Ann Neurol 1991;30:655-662.