Phosphoglycerate mutase deficiency: Case report of a manifesting heterozygote with a novel E154K mutation and very late onset

Acta Neuropathologica

Volumn 117, Issue 6, 2009, Pages 723-725

  Joshi, Pushpa Raj ^a,b   Knape, Manuela ^a   Zierz, Stephan ^a   Deschauer, Marcus ^a  

^a MARTIN LUTHER UNIVERSITÄT HALLE WITTENBERG   (Germany)

^b MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMIC ACID; LYSINE; PHOSPHOGLYCERATE MUTASE;

ADULT; AFRICA; AGED; ARTICLE; CASE REPORT; CONTROLLED STUDY; EXERCISE TEST; GENE MUTATION; GLYCOGEN MUSCLE LEVEL; GLYCOGEN STORAGE DISEASE; HETEROZYGOSITY; HUMAN; MUSCLE CRAMP; MYALGIA; NUCLEIC ACID BASE SUBSTITUTION; PHOSPHOGLYCERATE MUTASE DEFICIENCY; PRIORITY JOURNAL; RHABDOMYOLYSIS; SEQUENCE ANALYSIS;

AGE OF ONSET; AGED; AMINO ACID SEQUENCE; CONSERVED SEQUENCE; DNA MUTATIONAL ANALYSIS; GLYCOGEN STORAGE DISEASE; HETEROZYGOTE; HUMANS; MOLECULAR SEQUENCE DATA; MUSCLES; MUTATION, MISSENSE; PHOSPHOGLYCERATE MUTASE;

EID: 67349233516     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00401-009-0524-1     Document Type: Article

References (8)

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2. Hadjigeorgiou GM, Kawashima N, Bruno C et al (1999) Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle specific phosphoglycerate mutase (PGAM-M) gene. Neuromuscul Disord 9:399-402. doi: 10.1016/S0960-8966(99)00039-5
3. Oh SJ, Park K-S, Ryan HF et al (2006) Exercise-induced cramp, myoglobinuria, and tubular aggregates in phosphoglycerate mutase deficiency. Muscle Nerve 34:572-576. doi: 10.1002/mus.20622
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6. Tsujino S, Shanske S, Sakoda S, Toscano A, DiMauro S (1995) Molecular genetic studies in muscle phosphoglycerate mutase (PGAM-M) deficiency. Muscle Nerve 3:S50.3
7. Vita G, Toscano A, Bresolin N et al (1994) Muscle phosphoglycerate mutase (PGAM) deficiency in the first Caucasian patient: Biochemistry, muscle culture and 31P-MR spectroscopy. J Neurol 241:289-294. doi: 10.1007/BF00868435
8. Vockley J, Rinaldo P, Benett MJ, Matern D, Vladutiu GD (2000) Synergistic heterozygosity: Disease resulting from multiple partial defects in one or more metabolic pathways. Mol Genet Metab 71:10-18. doi: 10.1006/mgme.2000.3066